SNP Links for Protein (Select 44680143) - SNP

Links from Protein

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Select item 14887706741.

rs1488770674 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:139379694 (GRCh38)
5:138715383 (GRCh37)
Canonical SPDI:: NC_000005.10:139379693:G:A
Gene:: SLC23A1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.139379694G>A, NC_000005.9:g.138715383G>A, XM_005272149.5:c.1314C>T, XM_005272149.4:c.1017C>T, XM_005272149.3:c.1017C>T, XM_005272149.2:c.1314C>T, XM_005272149.1:c.1314C>T, NM_005847.5:c.909C>T, NM_005847.4:c.909C>T, XM_005272148.4:c.1326C>T, XM_005272148.3:c.1029C>T, XM_005272148.2:c.1326C>T, XM_005272148.1:c.1326C>T, NM_152685.4:c.921C>T, NM_152685.3:c.921C>T, XM_011543765.3:c.1326C>T, XM_011543765.2:c.1029C>T, XM_011543765.1:c.1029C>T, XM_006714741.3:c.1326C>T, XM_006714741.2:c.1029C>T, XM_006714741.1:c.1326C>T, XM_011543766.2:c.1107C>T, XM_011543766.1:c.810C>T, XM_011543767.2:c.1011C>T, XM_011543767.1:c.714C>T, XM_047417955.1:c.1326C>T, XM_047417956.1:c.1314C>T, XM_047417957.1:c.1197C>T, XM_047417958.1:c.702C>T

Select item 14877420872.

rs1487742087 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 5:139378226 (GRCh38)
5:138713915 (GRCh37)
Canonical SPDI:: NC_000005.10:139378225:G:A,NC_000005.10:139378225:G:T
Gene:: SLC23A1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.139378226G>A, NC_000005.10:g.139378226G>T, NC_000005.9:g.138713915G>A, NC_000005.9:g.138713915G>T, XM_005272149.5:c.1710C>T, XM_005272149.5:c.1710C>A, XM_005272149.4:c.1413C>T, XM_005272149.4:c.1413C>A, XM_005272149.3:c.1413C>T, XM_005272149.3:c.1413C>A, XM_005272149.2:c.1710C>T, XM_005272149.2:c.1710C>A, XM_005272149.1:c.1710C>T, XM_005272149.1:c.1710C>A, NM_005847.5:c.1305C>T, NM_005847.5:c.1305C>A, NM_005847.4:c.1305C>T, NM_005847.4:c.1305C>A, XM_005272148.4:c.1722C>T, XM_005272148.4:c.1722C>A, XM_005272148.3:c.1425C>T, XM_005272148.3:c.1425C>A, XM_005272148.2:c.1722C>T, XM_005272148.2:c.1722C>A, XM_005272148.1:c.1722C>T, XM_005272148.1:c.1722C>A, NM_152685.4:c.1317C>T, NM_152685.4:c.1317C>A, NM_152685.3:c.1317C>T, NM_152685.3:c.1317C>A, XM_011543765.3:c.1722C>T, XM_011543765.3:c.1722C>A, XM_011543765.2:c.1425C>T, XM_011543765.2:c.1425C>A, XM_011543765.1:c.1425C>T, XM_011543765.1:c.1425C>A, XM_006714741.3:c.1722C>T, XM_006714741.3:c.1722C>A, XM_006714741.2:c.1425C>T, XM_006714741.2:c.1425C>A, XM_006714741.1:c.1722C>T, XM_006714741.1:c.1722C>A, XM_011543766.2:c.1503C>T, XM_011543766.2:c.1503C>A, XM_011543766.1:c.1206C>T, XM_011543766.1:c.1206C>A, XM_011543767.2:c.1407C>T, XM_011543767.2:c.1407C>A, XM_011543767.1:c.1110C>T, XM_011543767.1:c.1110C>A, XM_047417955.1:c.1722C>T, XM_047417955.1:c.1722C>A, XM_047417956.1:c.1710C>T, XM_047417956.1:c.1710C>A, XM_047417957.1:c.1593C>T, XM_047417957.1:c.1593C>A, XM_047417958.1:c.1098C>T, XM_047417958.1:c.1098C>A

Select item 14872865823.

rs1487286582 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:139380382 (GRCh38)
5:138716071 (GRCh37)
Canonical SPDI:: NC_000005.10:139380381:C:T
Gene:: SLC23A1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.139380382C>T, NC_000005.9:g.138716071C>T, XM_005272149.5:c.878G>A, XM_005272149.4:c.581G>A, XM_005272149.3:c.581G>A, XM_005272149.2:c.878G>A, XM_005272149.1:c.878G>A, NM_005847.5:c.473G>A, NM_005847.4:c.473G>A, XM_005272148.4:c.890G>A, XM_005272148.3:c.593G>A, XM_005272148.2:c.890G>A, XM_005272148.1:c.890G>A, NM_152685.4:c.485G>A, NM_152685.3:c.485G>A, XM_011543765.3:c.890G>A, XM_011543765.2:c.593G>A, XM_011543765.1:c.593G>A, XM_006714741.3:c.890G>A, XM_006714741.2:c.593G>A, XM_006714741.1:c.890G>A, XM_047417955.1:c.890G>A, XM_047417956.1:c.878G>A, XM_047417957.1:c.761G>A, XP_005272206.4:p.Gly293Asp, NP_005838.3:p.Gly158Asp, XP_005272205.4:p.Gly297Asp, NP_689898.2:p.Gly162Asp, XP_011542067.2:p.Gly297Asp, XP_006714804.3:p.Gly297Asp, XP_047273911.1:p.Gly297Asp, XP_047273912.1:p.Gly293Asp, XP_047273913.1:p.Gly254Asp

Select item 14871293444.

rs1487129344 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:139382591 (GRCh38)
5:138718280 (GRCh37)
Canonical SPDI:: NC_000005.10:139382590:C:G
Gene:: SLC23A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.139382591C>G, NC_000005.9:g.138718280C>G, XM_005272149.5:c.456G>C, XM_005272149.4:c.159G>C, XM_005272149.3:c.159G>C, XM_005272149.2:c.456G>C, XM_005272149.1:c.456G>C, NM_005847.5:c.51G>C, NM_005847.4:c.51G>C, XM_005272148.4:c.456G>C, XM_005272148.3:c.159G>C, XM_005272148.2:c.456G>C, XM_005272148.1:c.456G>C, NM_152685.4:c.51G>C, NM_152685.3:c.51G>C, XM_011543765.3:c.456G>C, XM_011543765.2:c.159G>C, XM_011543765.1:c.159G>C, XM_006714741.3:c.456G>C, XM_006714741.2:c.159G>C, XM_006714741.1:c.456G>C, XM_011543766.2:c.456G>C, XM_011543766.1:c.159G>C, XM_011543767.2:c.456G>C, XM_011543767.1:c.159G>C, XM_047417955.1:c.456G>C, XM_047417956.1:c.456G>C, XM_047417957.1:c.327G>C, XM_047417958.1:c.51G>C, XP_005272206.4:p.Arg152Ser, NP_005838.3:p.Arg17Ser, XP_005272205.4:p.Arg152Ser, NP_689898.2:p.Arg17Ser, XP_011542067.2:p.Arg152Ser, XP_006714804.3:p.Arg152Ser, XP_011542068.2:p.Arg152Ser, XP_011542069.2:p.Arg152Ser, XP_047273911.1:p.Arg152Ser, XP_047273912.1:p.Arg152Ser, XP_047273913.1:p.Arg109Ser, XP_047273914.1:p.Arg17Ser

Select item 14870652235.

rs1487065223 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:139382538 (GRCh38)
5:138718227 (GRCh37)
Canonical SPDI:: NC_000005.10:139382537:A:C
Gene:: SLC23A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.139382538A>C, NC_000005.9:g.138718227A>C, XM_005272149.5:c.509T>G, XM_005272149.4:c.212T>G, XM_005272149.3:c.212T>G, XM_005272149.2:c.509T>G, XM_005272149.1:c.509T>G, NM_005847.5:c.104T>G, NM_005847.4:c.104T>G, XM_005272148.4:c.509T>G, XM_005272148.3:c.212T>G, XM_005272148.2:c.509T>G, XM_005272148.1:c.509T>G, NM_152685.4:c.104T>G, NM_152685.3:c.104T>G, XM_011543765.3:c.509T>G, XM_011543765.2:c.212T>G, XM_011543765.1:c.212T>G, XM_006714741.3:c.509T>G, XM_006714741.2:c.212T>G, XM_006714741.1:c.509T>G, XM_011543766.2:c.509T>G, XM_011543766.1:c.212T>G, XM_011543767.2:c.509T>G, XM_011543767.1:c.212T>G, XM_047417955.1:c.509T>G, XM_047417956.1:c.509T>G, XM_047417957.1:c.380T>G, XM_047417958.1:c.104T>G, XP_005272206.4:p.Ile170Ser, NP_005838.3:p.Ile35Ser, XP_005272205.4:p.Ile170Ser, NP_689898.2:p.Ile35Ser, XP_011542067.2:p.Ile170Ser, XP_006714804.3:p.Ile170Ser, XP_011542068.2:p.Ile170Ser, XP_011542069.2:p.Ile170Ser, XP_047273911.1:p.Ile170Ser, XP_047273912.1:p.Ile170Ser, XP_047273913.1:p.Ile127Ser, XP_047273914.1:p.Ile35Ser

Select item 14837042176.

rs1483704217 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:139378638 (GRCh38)
5:138714327 (GRCh37)
Canonical SPDI:: NC_000005.10:139378637:C:A
Gene:: SLC23A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.139378638C>A, NC_000005.9:g.138714327C>A, XM_005272149.5:c.1525G>T, XM_005272149.4:c.1228G>T, XM_005272149.3:c.1228G>T, XM_005272149.2:c.1525G>T, XM_005272149.1:c.1525G>T, NM_005847.5:c.1120G>T, NM_005847.4:c.1120G>T, XM_005272148.4:c.1537G>T, XM_005272148.3:c.1240G>T, XM_005272148.2:c.1537G>T, XM_005272148.1:c.1537G>T, NM_152685.4:c.1132G>T, NM_152685.3:c.1132G>T, XM_011543765.3:c.1537G>T, XM_011543765.2:c.1240G>T, XM_011543765.1:c.1240G>T, XM_006714741.3:c.1537G>T, XM_006714741.2:c.1240G>T, XM_006714741.1:c.1537G>T, XM_011543766.2:c.1318G>T, XM_011543766.1:c.1021G>T, XM_011543767.2:c.1222G>T, XM_011543767.1:c.925G>T, XM_047417955.1:c.1537G>T, XM_047417956.1:c.1525G>T, XM_047417957.1:c.1408G>T, XM_047417958.1:c.913G>T, XP_005272206.4:p.Gly509Cys, NP_005838.3:p.Gly374Cys, XP_005272205.4:p.Gly513Cys, NP_689898.2:p.Gly378Cys, XP_011542067.2:p.Gly513Cys, XP_006714804.3:p.Gly513Cys, XP_011542068.2:p.Gly440Cys, XP_011542069.2:p.Gly408Cys, XP_047273911.1:p.Gly513Cys, XP_047273912.1:p.Gly509Cys, XP_047273913.1:p.Gly470Cys, XP_047273914.1:p.Gly305Cys

Select item 14835742337.

rs1483574233 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:139379301 (GRCh38)
5:138714990 (GRCh37)
Canonical SPDI:: NC_000005.10:139379300:C:T
Gene:: SLC23A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000005.10:g.139379301C>T, NC_000005.9:g.138714990C>T, XM_005272149.5:c.1384G>A, XM_005272149.4:c.1087G>A, XM_005272149.3:c.1087G>A, XM_005272149.2:c.1384G>A, XM_005272149.1:c.1384G>A, NM_005847.5:c.979G>A, NM_005847.4:c.979G>A, XM_005272148.4:c.1396G>A, XM_005272148.3:c.1099G>A, XM_005272148.2:c.1396G>A, XM_005272148.1:c.1396G>A, NM_152685.4:c.991G>A, NM_152685.3:c.991G>A, XM_011543765.3:c.1396G>A, XM_011543765.2:c.1099G>A, XM_011543765.1:c.1099G>A, XM_006714741.3:c.1396G>A, XM_006714741.2:c.1099G>A, XM_006714741.1:c.1396G>A, XM_011543766.2:c.1177G>A, XM_011543766.1:c.880G>A, XM_011543767.2:c.1081G>A, XM_011543767.1:c.784G>A, XM_047417955.1:c.1396G>A, XM_047417956.1:c.1384G>A, XM_047417957.1:c.1267G>A, XM_047417958.1:c.772G>A, XP_005272206.4:p.Ala462Thr, NP_005838.3:p.Ala327Thr, XP_005272205.4:p.Ala466Thr, NP_689898.2:p.Ala331Thr, XP_011542067.2:p.Ala466Thr, XP_006714804.3:p.Ala466Thr, XP_011542068.2:p.Ala393Thr, XP_011542069.2:p.Ala361Thr, XP_047273911.1:p.Ala466Thr, XP_047273912.1:p.Ala462Thr, XP_047273913.1:p.Ala423Thr, XP_047273914.1:p.Ala258Thr

Select item 14817277178.

rs1481727717 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:139379707 (GRCh38)
5:138715396 (GRCh37)
Canonical SPDI:: NC_000005.10:139379706:A:G
Gene:: SLC23A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000005.10:g.139379707A>G, NC_000005.9:g.138715396A>G, XM_005272149.5:c.1301T>C, XM_005272149.4:c.1004T>C, XM_005272149.3:c.1004T>C, XM_005272149.2:c.1301T>C, XM_005272149.1:c.1301T>C, NM_005847.5:c.896T>C, NM_005847.4:c.896T>C, XM_005272148.4:c.1313T>C, XM_005272148.3:c.1016T>C, XM_005272148.2:c.1313T>C, XM_005272148.1:c.1313T>C, NM_152685.4:c.908T>C, NM_152685.3:c.908T>C, XM_011543765.3:c.1313T>C, XM_011543765.2:c.1016T>C, XM_011543765.1:c.1016T>C, XM_006714741.3:c.1313T>C, XM_006714741.2:c.1016T>C, XM_006714741.1:c.1313T>C, XM_011543766.2:c.1094T>C, XM_011543766.1:c.797T>C, XM_011543767.2:c.998T>C, XM_011543767.1:c.701T>C, XM_047417955.1:c.1313T>C, XM_047417956.1:c.1301T>C, XM_047417957.1:c.1184T>C, XM_047417958.1:c.689T>C, XP_005272206.4:p.Ile434Thr, NP_005838.3:p.Ile299Thr, XP_005272205.4:p.Ile438Thr, NP_689898.2:p.Ile303Thr, XP_011542067.2:p.Ile438Thr, XP_006714804.3:p.Ile438Thr, XP_011542068.2:p.Ile365Thr, XP_011542069.2:p.Ile333Thr, XP_047273911.1:p.Ile438Thr, XP_047273912.1:p.Ile434Thr, XP_047273913.1:p.Ile395Thr, XP_047273914.1:p.Ile230Thr

Select item 14791628049.

rs1479162804 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:139380353 (GRCh38)
5:138716042 (GRCh37)
Canonical SPDI:: NC_000005.10:139380352:C:T
Gene:: SLC23A1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000005.10:g.139380353C>T, NC_000005.9:g.138716042C>T, XM_005272149.5:c.907G>A, XM_005272149.4:c.610G>A, XM_005272149.3:c.610G>A, XM_005272149.2:c.907G>A, XM_005272149.1:c.907G>A, NM_005847.5:c.502G>A, NM_005847.4:c.502G>A, XM_005272148.4:c.919G>A, XM_005272148.3:c.622G>A, XM_005272148.2:c.919G>A, XM_005272148.1:c.919G>A, NM_152685.4:c.514G>A, NM_152685.3:c.514G>A, XM_011543765.3:c.919G>A, XM_011543765.2:c.622G>A, XM_011543765.1:c.622G>A, XM_006714741.3:c.919G>A, XM_006714741.2:c.622G>A, XM_006714741.1:c.919G>A, XM_047417955.1:c.919G>A, XM_047417956.1:c.907G>A, XM_047417957.1:c.790G>A, XP_005272206.4:p.Val303Met, NP_005838.3:p.Val168Met, XP_005272205.4:p.Val307Met, NP_689898.2:p.Val172Met, XP_011542067.2:p.Val307Met, XP_006714804.3:p.Val307Met, XP_047273911.1:p.Val307Met, XP_047273912.1:p.Val303Met, XP_047273913.1:p.Val264Met

Select item 147497789610.

rs1474977896 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:139380277 (GRCh38)
5:138715966 (GRCh37)
Canonical SPDI:: NC_000005.10:139380276:G:T
Gene:: SLC23A1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000005.10:g.139380277G>T, NC_000005.9:g.138715966G>T, XM_005272149.5:c.983C>A, XM_005272149.4:c.686C>A, XM_005272149.3:c.686C>A, XM_005272149.2:c.983C>A, XM_005272149.1:c.983C>A, NM_005847.5:c.578C>A, NM_005847.4:c.578C>A, XM_005272148.4:c.995C>A, XM_005272148.3:c.698C>A, XM_005272148.2:c.995C>A, XM_005272148.1:c.995C>A, NM_152685.4:c.590C>A, NM_152685.3:c.590C>A, XM_011543765.3:c.995C>A, XM_011543765.2:c.698C>A, XM_011543765.1:c.698C>A, XM_006714741.3:c.995C>A, XM_006714741.2:c.698C>A, XM_006714741.1:c.995C>A, XM_047417955.1:c.995C>A, XM_047417956.1:c.983C>A, XM_047417957.1:c.866C>A, XP_005272206.4:p.Ser328Tyr, NP_005838.3:p.Ser193Tyr, XP_005272205.4:p.Ser332Tyr, NP_689898.2:p.Ser197Tyr, XP_011542067.2:p.Ser332Tyr, XP_006714804.3:p.Ser332Tyr, XP_047273911.1:p.Ser332Tyr, XP_047273912.1:p.Ser328Tyr, XP_047273913.1:p.Ser289Tyr

Select item 147485219211.

rs1474852192 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:139372023 (GRCh38)
5:138707712 (GRCh37)
Canonical SPDI:: NC_000005.10:139372022:C:T
Gene:: SLC23A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.139372023C>T, NC_000005.9:g.138707712C>T, XM_005272149.5:c.2185G>A, XM_005272149.4:c.1888G>A, XM_005272149.3:c.1888G>A, XM_005272149.2:c.2185G>A, XM_005272149.1:c.2185G>A, NM_005847.5:c.1780G>A, NM_005847.4:c.1780G>A, XM_005272148.4:c.2197G>A, XM_005272148.3:c.1900G>A, XM_005272148.2:c.2197G>A, XM_005272148.1:c.2197G>A, NM_152685.4:c.1792G>A, NM_152685.3:c.1792G>A, XM_011543765.3:c.2197G>A, XM_011543765.2:c.1900G>A, XM_011543765.1:c.1900G>A, XM_006714741.3:c.2101G>A, XM_006714741.2:c.1804G>A, XM_006714741.1:c.2101G>A, XM_011543766.2:c.1978G>A, XM_011543766.1:c.1681G>A, XM_011543767.2:c.1882G>A, XM_011543767.1:c.1585G>A, XM_047417955.1:c.2197G>A, XM_047417956.1:c.2089G>A, XM_047417957.1:c.2068G>A, XM_047417958.1:c.1477G>A, XP_005272206.4:p.Val729Met, NP_005838.3:p.Val594Met, XP_005272205.4:p.Val733Met, NP_689898.2:p.Val598Met, XP_011542067.2:p.Val733Met, XP_006714804.3:p.Val701Met, XP_011542068.2:p.Val660Met, XP_011542069.2:p.Val628Met, XP_047273911.1:p.Val733Met, XP_047273912.1:p.Val697Met, XP_047273913.1:p.Val690Met, XP_047273914.1:p.Val493Met

Select item 147262182712.

rs1472621827 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:139383235 (GRCh38)
5:138718924 (GRCh37)
Canonical SPDI:: NC_000005.10:139383234:G:A
Gene:: SLC23A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000009/1 (GnomAD)
HGVS:: NC_000005.10:g.139383235G>A, NC_000005.9:g.138718924G>A, XM_005272149.5:c.424C>T, XM_005272149.4:c.127C>T, XM_005272149.3:c.127C>T, XM_005272149.2:c.424C>T, XM_005272149.1:c.424C>T, NM_005847.5:c.19C>T, NM_005847.4:c.19C>T, XM_005272148.4:c.424C>T, XM_005272148.3:c.127C>T, XM_005272148.2:c.424C>T, XM_005272148.1:c.424C>T, NM_152685.4:c.19C>T, NM_152685.3:c.19C>T, XM_011543765.3:c.424C>T, XM_011543765.2:c.127C>T, XM_011543765.1:c.127C>T, XM_006714741.3:c.424C>T, XM_006714741.2:c.127C>T, XM_006714741.1:c.424C>T, XM_011543766.2:c.424C>T, XM_011543766.1:c.127C>T, XM_011543767.2:c.424C>T, XM_011543767.1:c.127C>T, XM_047417955.1:c.424C>T, XM_047417956.1:c.424C>T, XM_047417957.1:c.295C>T, XM_047417958.1:c.19C>T, XP_005272206.4:p.Leu142Phe, NP_005838.3:p.Leu7Phe, XP_005272205.4:p.Leu142Phe, NP_689898.2:p.Leu7Phe, XP_011542067.2:p.Leu142Phe, XP_006714804.3:p.Leu142Phe, XP_011542068.2:p.Leu142Phe, XP_011542069.2:p.Leu142Phe, XP_047273911.1:p.Leu142Phe, XP_047273912.1:p.Leu142Phe, XP_047273913.1:p.Leu99Phe, XP_047273914.1:p.Leu7Phe

Select item 147101483213.

rs1471014832 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:139381911 (GRCh38)
5:138717600 (GRCh37)
Canonical SPDI:: NC_000005.10:139381910:G:A
Gene:: SLC23A1 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
HGVS:: NC_000005.10:g.139381911G>A, NC_000005.9:g.138717600G>A, XM_005272149.5:c.694C>T, XM_005272149.4:c.397C>T, XM_005272149.3:c.397C>T, XM_005272149.2:c.694C>T, XM_005272149.1:c.694C>T, NM_005847.5:c.289C>T, NM_005847.4:c.289C>T, XM_005272148.4:c.694C>T, XM_005272148.3:c.397C>T, XM_005272148.2:c.694C>T, XM_005272148.1:c.694C>T, NM_152685.4:c.289C>T, NM_152685.3:c.289C>T, XM_011543765.3:c.694C>T, XM_011543765.2:c.397C>T, XM_011543765.1:c.397C>T, XM_006714741.3:c.694C>T, XM_006714741.2:c.397C>T, XM_006714741.1:c.694C>T, XM_011543766.2:c.694C>T, XM_011543766.1:c.397C>T, XM_011543767.2:c.694C>T, XM_011543767.1:c.397C>T, XM_047417955.1:c.694C>T, XM_047417956.1:c.694C>T, XM_047417957.1:c.565C>T, XM_047417958.1:c.289C>T, XP_005272206.4:p.Gln232Ter, NP_005838.3:p.Gln97Ter, XP_005272205.4:p.Gln232Ter, NP_689898.2:p.Gln97Ter, XP_011542067.2:p.Gln232Ter, XP_006714804.3:p.Gln232Ter, XP_011542068.2:p.Gln232Ter, XP_011542069.2:p.Gln232Ter, XP_047273911.1:p.Gln232Ter, XP_047273912.1:p.Gln232Ter, XP_047273913.1:p.Gln189Ter, XP_047273914.1:p.Gln97Ter

Select item 146937555114.

rs1469375551 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:139372212 (GRCh38)
5:138707901 (GRCh37)
Canonical SPDI:: NC_000005.10:139372211:C:G
Gene:: SLC23A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.139372212C>G, NC_000005.9:g.138707901C>G, XM_005272149.5:c.1996G>C, XM_005272149.4:c.1699G>C, XM_005272149.3:c.1699G>C, XM_005272149.2:c.1996G>C, XM_005272149.1:c.1996G>C, NM_005847.5:c.1591G>C, NM_005847.4:c.1591G>C, XM_005272148.4:c.2008G>C, XM_005272148.3:c.1711G>C, XM_005272148.2:c.2008G>C, XM_005272148.1:c.2008G>C, NM_152685.4:c.1603G>C, NM_152685.3:c.1603G>C, XM_011543765.3:c.2008G>C, XM_011543765.2:c.1711G>C, XM_011543765.1:c.1711G>C, XM_006714741.3:c.1912G>C, XM_006714741.2:c.1615G>C, XM_006714741.1:c.1912G>C, XM_011543766.2:c.1789G>C, XM_011543766.1:c.1492G>C, XM_011543767.2:c.1693G>C, XM_011543767.1:c.1396G>C, XM_047417955.1:c.2008G>C, XM_047417956.1:c.1900G>C, XM_047417957.1:c.1879G>C, XM_047417958.1:c.1288G>C, XP_005272206.4:p.Ala666Pro, NP_005838.3:p.Ala531Pro, XP_005272205.4:p.Ala670Pro, NP_689898.2:p.Ala535Pro, XP_011542067.2:p.Ala670Pro, XP_006714804.3:p.Ala638Pro, XP_011542068.2:p.Ala597Pro, XP_011542069.2:p.Ala565Pro, XP_047273911.1:p.Ala670Pro, XP_047273912.1:p.Ala634Pro, XP_047273913.1:p.Ala627Pro, XP_047273914.1:p.Ala430Pro

Select item 146629443015.

rs1466294430 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:139379992 (GRCh38)
5:138715681 (GRCh37)
Canonical SPDI:: NC_000005.10:139379991:G:A
Gene:: SLC23A1 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.139379992G>A, NC_000005.9:g.138715681G>A, XM_005272149.5:c.1137C>T, XM_005272149.4:c.840C>T, XM_005272149.3:c.840C>T, XM_005272149.2:c.1137C>T, XM_005272149.1:c.1137C>T, NM_005847.5:c.732C>T, NM_005847.4:c.732C>T, XM_005272148.4:c.1149C>T, XM_005272148.3:c.852C>T, XM_005272148.2:c.1149C>T, XM_005272148.1:c.1149C>T, NM_152685.4:c.744C>T, NM_152685.3:c.744C>T, XM_011543765.3:c.1149C>T, XM_011543765.2:c.852C>T, XM_011543765.1:c.852C>T, XM_006714741.3:c.1149C>T, XM_006714741.2:c.852C>T, XM_006714741.1:c.1149C>T, XM_011543766.2:c.930C>T, XM_011543766.1:c.633C>T, XM_047417955.1:c.1149C>T, XM_047417956.1:c.1137C>T, XM_047417957.1:c.1020C>T, XM_047417958.1:c.525C>T

Select item 146548330116.

rs1465483301 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:139382509 (GRCh38)
5:138718198 (GRCh37)
Canonical SPDI:: NC_000005.10:139382508:T:C
Gene:: SLC23A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000031/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
C=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000005.10:g.139382509T>C, NC_000005.9:g.138718198T>C, XM_005272149.5:c.538A>G, XM_005272149.4:c.241A>G, XM_005272149.3:c.241A>G, XM_005272149.2:c.538A>G, XM_005272149.1:c.538A>G, NM_005847.5:c.133A>G, NM_005847.4:c.133A>G, XM_005272148.4:c.538A>G, XM_005272148.3:c.241A>G, XM_005272148.2:c.538A>G, XM_005272148.1:c.538A>G, NM_152685.4:c.133A>G, NM_152685.3:c.133A>G, XM_011543765.3:c.538A>G, XM_011543765.2:c.241A>G, XM_011543765.1:c.241A>G, XM_006714741.3:c.538A>G, XM_006714741.2:c.241A>G, XM_006714741.1:c.538A>G, XM_011543766.2:c.538A>G, XM_011543766.1:c.241A>G, XM_011543767.2:c.538A>G, XM_011543767.1:c.241A>G, XM_047417955.1:c.538A>G, XM_047417956.1:c.538A>G, XM_047417957.1:c.409A>G, XM_047417958.1:c.133A>G, XP_005272206.4:p.Ile180Val, NP_005838.3:p.Ile45Val, XP_005272205.4:p.Ile180Val, NP_689898.2:p.Ile45Val, XP_011542067.2:p.Ile180Val, XP_006714804.3:p.Ile180Val, XP_011542068.2:p.Ile180Val, XP_011542069.2:p.Ile180Val, XP_047273911.1:p.Ile180Val, XP_047273912.1:p.Ile180Val, XP_047273913.1:p.Ile137Val, XP_047273914.1:p.Ile45Val

Select item 146528120117.

rs1465281201 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 5:139378672 (GRCh38)
5:138714361 (GRCh37)
Canonical SPDI:: NC_000005.10:139378671:G:A,NC_000005.10:139378671:G:T
Gene:: SLC23A1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.00007/1 (TOMMO)
HGVS:: NC_000005.10:g.139378672G>A, NC_000005.10:g.139378672G>T, NC_000005.9:g.138714361G>A, NC_000005.9:g.138714361G>T, XM_005272149.5:c.1491C>T, XM_005272149.5:c.1491C>A, XM_005272149.4:c.1194C>T, XM_005272149.4:c.1194C>A, XM_005272149.3:c.1194C>T, XM_005272149.3:c.1194C>A, XM_005272149.2:c.1491C>T, XM_005272149.2:c.1491C>A, XM_005272149.1:c.1491C>T, XM_005272149.1:c.1491C>A, NM_005847.5:c.1086C>T, NM_005847.5:c.1086C>A, NM_005847.4:c.1086C>T, NM_005847.4:c.1086C>A, XM_005272148.4:c.1503C>T, XM_005272148.4:c.1503C>A, XM_005272148.3:c.1206C>T, XM_005272148.3:c.1206C>A, XM_005272148.2:c.1503C>T, XM_005272148.2:c.1503C>A, XM_005272148.1:c.1503C>T, XM_005272148.1:c.1503C>A, NM_152685.4:c.1098C>T, NM_152685.4:c.1098C>A, NM_152685.3:c.1098C>T, NM_152685.3:c.1098C>A, XM_011543765.3:c.1503C>T, XM_011543765.3:c.1503C>A, XM_011543765.2:c.1206C>T, XM_011543765.2:c.1206C>A, XM_011543765.1:c.1206C>T, XM_011543765.1:c.1206C>A, XM_006714741.3:c.1503C>T, XM_006714741.3:c.1503C>A, XM_006714741.2:c.1206C>T, XM_006714741.2:c.1206C>A, XM_006714741.1:c.1503C>T, XM_006714741.1:c.1503C>A, XM_011543766.2:c.1284C>T, XM_011543766.2:c.1284C>A, XM_011543766.1:c.987C>T, XM_011543766.1:c.987C>A, XM_011543767.2:c.1188C>T, XM_011543767.2:c.1188C>A, XM_011543767.1:c.891C>T, XM_011543767.1:c.891C>A, XM_047417955.1:c.1503C>T, XM_047417955.1:c.1503C>A, XM_047417956.1:c.1491C>T, XM_047417956.1:c.1491C>A, XM_047417957.1:c.1374C>T, XM_047417957.1:c.1374C>A, XM_047417958.1:c.879C>T, XM_047417958.1:c.879C>A

Select item 146413115118.

rs1464131151 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:139378286 (GRCh38)
5:138713975 (GRCh37)
Canonical SPDI:: NC_000005.10:139378285:C:G
Gene:: SLC23A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.139378286C>G, NC_000005.9:g.138713975C>G, XM_005272149.5:c.1650G>C, XM_005272149.4:c.1353G>C, XM_005272149.3:c.1353G>C, XM_005272149.2:c.1650G>C, XM_005272149.1:c.1650G>C, NM_005847.5:c.1245G>C, NM_005847.4:c.1245G>C, XM_005272148.4:c.1662G>C, XM_005272148.3:c.1365G>C, XM_005272148.2:c.1662G>C, XM_005272148.1:c.1662G>C, NM_152685.4:c.1257G>C, NM_152685.3:c.1257G>C, XM_011543765.3:c.1662G>C, XM_011543765.2:c.1365G>C, XM_011543765.1:c.1365G>C, XM_006714741.3:c.1662G>C, XM_006714741.2:c.1365G>C, XM_006714741.1:c.1662G>C, XM_011543766.2:c.1443G>C, XM_011543766.1:c.1146G>C, XM_011543767.2:c.1347G>C, XM_011543767.1:c.1050G>C, XM_047417955.1:c.1662G>C, XM_047417956.1:c.1650G>C, XM_047417957.1:c.1533G>C, XM_047417958.1:c.1038G>C, XP_005272206.4:p.Lys550Asn, NP_005838.3:p.Lys415Asn, XP_005272205.4:p.Lys554Asn, NP_689898.2:p.Lys419Asn, XP_011542067.2:p.Lys554Asn, XP_006714804.3:p.Lys554Asn, XP_011542068.2:p.Lys481Asn, XP_011542069.2:p.Lys449Asn, XP_047273911.1:p.Lys554Asn, XP_047273912.1:p.Lys550Asn, XP_047273913.1:p.Lys511Asn, XP_047273914.1:p.Lys346Asn

Select item 146369366719.

rs1463693667 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:139378593 (GRCh38)
5:138714282 (GRCh37)
Canonical SPDI:: NC_000005.10:139378592:G:T
Gene:: SLC23A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.139378593G>T, NC_000005.9:g.138714282G>T, XM_005272149.5:c.1570C>A, XM_005272149.4:c.1273C>A, XM_005272149.3:c.1273C>A, XM_005272149.2:c.1570C>A, XM_005272149.1:c.1570C>A, NM_005847.5:c.1165C>A, NM_005847.4:c.1165C>A, XM_005272148.4:c.1582C>A, XM_005272148.3:c.1285C>A, XM_005272148.2:c.1582C>A, XM_005272148.1:c.1582C>A, NM_152685.4:c.1177C>A, NM_152685.3:c.1177C>A, XM_011543765.3:c.1582C>A, XM_011543765.2:c.1285C>A, XM_011543765.1:c.1285C>A, XM_006714741.3:c.1582C>A, XM_006714741.2:c.1285C>A, XM_006714741.1:c.1582C>A, XM_011543766.2:c.1363C>A, XM_011543766.1:c.1066C>A, XM_011543767.2:c.1267C>A, XM_011543767.1:c.970C>A, XM_047417955.1:c.1582C>A, XM_047417956.1:c.1570C>A, XM_047417957.1:c.1453C>A, XM_047417958.1:c.958C>A, XP_005272206.4:p.Leu524Met, NP_005838.3:p.Leu389Met, XP_005272205.4:p.Leu528Met, NP_689898.2:p.Leu393Met, XP_011542067.2:p.Leu528Met, XP_006714804.3:p.Leu528Met, XP_011542068.2:p.Leu455Met, XP_011542069.2:p.Leu423Met, XP_047273911.1:p.Leu528Met, XP_047273912.1:p.Leu524Met, XP_047273913.1:p.Leu485Met, XP_047273914.1:p.Leu320Met

Select item 146363169320.

rs1463631693 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:139382493 (GRCh38)
5:138718182 (GRCh37)
Canonical SPDI:: NC_000005.10:139382492:T:C
Gene:: SLC23A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.139382493T>C, NC_000005.9:g.138718182T>C, XM_005272149.5:c.554A>G, XM_005272149.4:c.257A>G, XM_005272149.3:c.257A>G, XM_005272149.2:c.554A>G, XM_005272149.1:c.554A>G, NM_005847.5:c.149A>G, NM_005847.4:c.149A>G, XM_005272148.4:c.554A>G, XM_005272148.3:c.257A>G, XM_005272148.2:c.554A>G, XM_005272148.1:c.554A>G, NM_152685.4:c.149A>G, NM_152685.3:c.149A>G, XM_011543765.3:c.554A>G, XM_011543765.2:c.257A>G, XM_011543765.1:c.257A>G, XM_006714741.3:c.554A>G, XM_006714741.2:c.257A>G, XM_006714741.1:c.554A>G, XM_011543766.2:c.554A>G, XM_011543766.1:c.257A>G, XM_011543767.2:c.554A>G, XM_011543767.1:c.257A>G, XM_047417955.1:c.554A>G, XM_047417956.1:c.554A>G, XM_047417957.1:c.425A>G, XM_047417958.1:c.149A>G, XP_005272206.4:p.Gln185Arg, NP_005838.3:p.Gln50Arg, XP_005272205.4:p.Gln185Arg, NP_689898.2:p.Gln50Arg, XP_011542067.2:p.Gln185Arg, XP_006714804.3:p.Gln185Arg, XP_011542068.2:p.Gln185Arg, XP_011542069.2:p.Gln185Arg, XP_047273911.1:p.Gln185Arg, XP_047273912.1:p.Gln185Arg, XP_047273913.1:p.Gln142Arg, XP_047273914.1:p.Gln50Arg

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