SNP Links for Protein (Select 319996606) - SNP

Links from Protein

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Select item 14904391541.

rs1490439154 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:3084632 (GRCh38)
X:3002673 (GRCh37)
Canonical SPDI:: NC_000023.11:3084631:A:T
Gene:: ARSF (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000087/2 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000006/1 (GnomAD_exomes)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.3084632A>T, NC_000023.10:g.3002673A>T, NG_012822.2:g.49399A>T, NM_004042.5:c.796A>T, NM_004042.4:c.796A>T, NM_001201539.2:c.796A>T, NM_001201539.1:c.796A>T, NM_001201538.2:c.796A>T, NM_001201538.1:c.796A>T, XM_011545522.2:c.847A>T, XM_011545522.1:c.847A>T, XM_011545523.2:c.847A>T, XM_011545523.1:c.847A>T, XM_011545524.2:c.847A>T, XM_011545524.1:c.847A>T, XM_017029528.1:c.847A>T, NP_004033.2:p.Ile266Phe, NP_001188468.1:p.Ile266Phe, NP_001188467.1:p.Ile266Phe, XP_011543824.1:p.Ile283Phe, XP_011543825.1:p.Ile283Phe, XP_011543826.1:p.Ile283Phe, XP_016885017.1:p.Ile283Phe

Select item 14882590842.

rs1488259084 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:3084531 (GRCh38)
X:3002572 (GRCh37)
Canonical SPDI:: NC_000023.11:3084530:C:A
Gene:: ARSF (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.3084531C>A, NC_000023.10:g.3002572C>A, NG_012822.2:g.49298C>A, NM_004042.5:c.695C>A, NM_004042.4:c.695C>A, NM_001201539.2:c.695C>A, NM_001201539.1:c.695C>A, NM_001201538.2:c.695C>A, NM_001201538.1:c.695C>A, XM_011545522.2:c.746C>A, XM_011545522.1:c.746C>A, XM_011545523.2:c.746C>A, XM_011545523.1:c.746C>A, XM_011545524.2:c.746C>A, XM_011545524.1:c.746C>A, XM_017029528.1:c.746C>A, NP_004033.2:p.Ala232Asp, NP_001188468.1:p.Ala232Asp, NP_001188467.1:p.Ala232Asp, XP_011543824.1:p.Ala249Asp, XP_011543825.1:p.Ala249Asp, XP_011543826.1:p.Ala249Asp, XP_016885017.1:p.Ala249Asp

Select item 14856298403.

rs1485629840 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:3084327 (GRCh38)
X:3002368 (GRCh37)
Canonical SPDI:: NC_000023.11:3084326:G:A
Gene:: ARSF (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.3084327G>A, NC_000023.10:g.3002368G>A, NG_012822.2:g.49094G>A, NM_004042.5:c.491G>A, NM_004042.4:c.491G>A, NM_001201539.2:c.491G>A, NM_001201539.1:c.491G>A, NM_001201538.2:c.491G>A, NM_001201538.1:c.491G>A, XM_011545522.2:c.542G>A, XM_011545522.1:c.542G>A, XM_011545523.2:c.542G>A, XM_011545523.1:c.542G>A, XM_011545524.2:c.542G>A, XM_011545524.1:c.542G>A, XM_017029528.1:c.542G>A, NP_004033.2:p.Gly164Asp, NP_001188468.1:p.Gly164Asp, NP_001188467.1:p.Gly164Asp, XP_011543824.1:p.Gly181Asp, XP_011543825.1:p.Gly181Asp, XP_011543826.1:p.Gly181Asp, XP_016885017.1:p.Gly181Asp

Select item 14798026194.

rs1479802619 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:3101180 (GRCh38)
X:3019221 (GRCh37)
Canonical SPDI:: NC_000023.11:3101179:G:A
Gene:: ARSF (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000023/6 (TOPMED)
HGVS:: NC_000023.11:g.3101180G>A, NC_000023.10:g.3019221G>A, NG_012822.2:g.65947G>A, NM_004042.5:c.1061G>A, NM_004042.4:c.1061G>A, NM_001201539.2:c.1061G>A, NM_001201539.1:c.1061G>A, NM_001201538.2:c.1061G>A, NM_001201538.1:c.1061G>A, XM_011545522.2:c.1112G>A, XM_011545522.1:c.1112G>A, XM_011545523.2:c.1025G>A, XM_011545523.1:c.1025G>A, XM_017029528.1:c.*81G>A, NP_004033.2:p.Arg354Gln, NP_001188468.1:p.Arg354Gln, NP_001188467.1:p.Arg354Gln, XP_011543824.1:p.Arg371Gln, XP_011543825.1:p.Arg342Gln

Select item 14779192175.

rs1477919217 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:3112278 (GRCh38)
X:3030319 (GRCh37)
Canonical SPDI:: NC_000023.11:3112277:A:G
Gene:: ARSF (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.3112278A>G, NC_000023.10:g.3030319A>G, NG_012822.2:g.77045A>G, NM_004042.5:c.1495A>G, NM_004042.4:c.1495A>G, NM_001201539.2:c.1495A>G, NM_001201539.1:c.1495A>G, NM_001201538.2:c.1495A>G, NM_001201538.1:c.1495A>G, XM_011545522.2:c.1546A>G, XM_011545522.1:c.1546A>G, XM_011545523.2:c.1459A>G, XM_011545523.1:c.1459A>G, XM_011545524.2:c.1111A>G, XM_011545524.1:c.1111A>G, NP_004033.2:p.Thr499Ala, NP_001188468.1:p.Thr499Ala, NP_001188467.1:p.Thr499Ala, XP_011543824.1:p.Thr516Ala, XP_011543825.1:p.Thr487Ala, XP_011543826.1:p.Thr371Ala

Select item 14748886616.

rs1474888661 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:3084261 (GRCh38)
X:3002302 (GRCh37)
Canonical SPDI:: NC_000023.11:3084260:T:C
Gene:: ARSF (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.3084261T>C, NC_000023.10:g.3002302T>C, NG_012822.2:g.49028T>C, NM_004042.5:c.425T>C, NM_004042.4:c.425T>C, NM_001201539.2:c.425T>C, NM_001201539.1:c.425T>C, NM_001201538.2:c.425T>C, NM_001201538.1:c.425T>C, XM_011545522.2:c.476T>C, XM_011545522.1:c.476T>C, XM_011545523.2:c.476T>C, XM_011545523.1:c.476T>C, XM_011545524.2:c.476T>C, XM_011545524.1:c.476T>C, XM_017029528.1:c.476T>C, NP_004033.2:p.Leu142Ser, NP_001188468.1:p.Leu142Ser, NP_001188467.1:p.Leu142Ser, XP_011543824.1:p.Leu159Ser, XP_011543825.1:p.Leu159Ser, XP_011543826.1:p.Leu159Ser, XP_016885017.1:p.Leu159Ser

Select item 14698981187.

rs1469898118 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:3103840 (GRCh38)
X:3021881 (GRCh37)
Canonical SPDI:: NC_000023.11:3103839:G:A
Gene:: ARSF (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
HGVS:: NC_000023.11:g.3103840G>A, NC_000023.10:g.3021881G>A, NG_012822.2:g.68607G>A, NM_004042.5:c.1181G>A, NM_004042.4:c.1181G>A, NM_001201539.2:c.1181G>A, NM_001201539.1:c.1181G>A, NM_001201538.2:c.1181G>A, NM_001201538.1:c.1181G>A, XM_011545522.2:c.1232G>A, XM_011545522.1:c.1232G>A, XM_011545523.2:c.1145G>A, XM_011545523.1:c.1145G>A, NP_004033.2:p.Gly394Glu, NP_001188468.1:p.Gly394Glu, NP_001188467.1:p.Gly394Glu, XP_011543824.1:p.Gly411Glu, XP_011543825.1:p.Gly382Glu

Select item 14671184128.

rs1467118412 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:3076578 (GRCh38)
X:2994619 (GRCh37)
Canonical SPDI:: NC_000023.11:3076577:A:T
Gene:: ARSF (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000006/1 (GnomAD_exomes)
T=0.00009/1 (TOMMO)
HGVS:: NC_000023.11:g.3076578A>T, NC_000023.10:g.2994619A>T, NG_012822.2:g.41345A>T, NM_004042.5:c.192A>T, NM_004042.4:c.192A>T, NM_001201539.2:c.192A>T, NM_001201539.1:c.192A>T, NM_001201538.2:c.192A>T, NM_001201538.1:c.192A>T, XM_011545522.2:c.243A>T, XM_011545522.1:c.243A>T, XM_011545523.2:c.243A>T, XM_011545523.1:c.243A>T, XM_011545524.2:c.243A>T, XM_011545524.1:c.243A>T, XM_017029528.1:c.243A>T, NP_004033.2:p.Glu64Asp, NP_001188468.1:p.Glu64Asp, NP_001188467.1:p.Glu64Asp, XP_011543824.1:p.Glu81Asp, XP_011543825.1:p.Glu81Asp, XP_011543826.1:p.Glu81Asp, XP_016885017.1:p.Glu81Asp

Select item 14641647689.

rs1464164768 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:3089595 (GRCh38)
X:3007636 (GRCh37)
Canonical SPDI:: NC_000023.11:3089594:G:A
Gene:: ARSF (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/2 (GnomAD_exomes)
HGVS:: NC_000023.11:g.3089595G>A, NC_000023.10:g.3007636G>A, NG_012822.2:g.54362G>A, NM_004042.5:c.930G>A, NM_004042.4:c.930G>A, NM_001201539.2:c.930G>A, NM_001201539.1:c.930G>A, NM_001201538.2:c.930G>A, NM_001201538.1:c.930G>A, XM_011545522.2:c.981G>A, XM_011545522.1:c.981G>A, XM_011545523.2:c.894G>A, XM_011545523.1:c.894G>A

Select item 146224629110.

rs1462246291 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:3112309 (GRCh38)
X:3030350 (GRCh37)
Canonical SPDI:: NC_000023.11:3112308:T:C
Gene:: ARSF (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.3112309T>C, NC_000023.10:g.3030350T>C, NG_012822.2:g.77076T>C, NM_004042.5:c.1526T>C, NM_004042.4:c.1526T>C, NM_001201539.2:c.1526T>C, NM_001201539.1:c.1526T>C, NM_001201538.2:c.1526T>C, NM_001201538.1:c.1526T>C, XM_011545522.2:c.1577T>C, XM_011545522.1:c.1577T>C, XM_011545523.2:c.1490T>C, XM_011545523.1:c.1490T>C, XM_011545524.2:c.1142T>C, XM_011545524.1:c.1142T>C, NP_004033.2:p.Leu509Pro, NP_001188468.1:p.Leu509Pro, NP_001188467.1:p.Leu509Pro, XP_011543824.1:p.Leu526Pro, XP_011543825.1:p.Leu497Pro, XP_011543826.1:p.Leu381Pro

Select item 145919252311.

rs1459192523 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:3112455 (GRCh38)
X:3030496 (GRCh37)
Canonical SPDI:: NC_000023.11:3112454:G:C
Gene:: ARSF (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.3112455G>C, NC_000023.10:g.3030496G>C, NG_012822.2:g.77222G>C, NM_004042.5:c.1672G>C, NM_004042.4:c.1672G>C, NM_001201539.2:c.1672G>C, NM_001201539.1:c.1672G>C, NM_001201538.2:c.1672G>C, NM_001201538.1:c.1672G>C, XM_011545522.2:c.1723G>C, XM_011545522.1:c.1723G>C, XM_011545523.2:c.1636G>C, XM_011545523.1:c.1636G>C, XM_011545524.2:c.1288G>C, XM_011545524.1:c.1288G>C, NP_004033.2:p.Gly558Arg, NP_001188468.1:p.Gly558Arg, NP_001188467.1:p.Gly558Arg, XP_011543824.1:p.Gly575Arg, XP_011543825.1:p.Gly546Arg, XP_011543826.1:p.Gly430Arg

Select item 145859377412.

rs1458593774 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:3084271 (GRCh38)
X:3002312 (GRCh37)
Canonical SPDI:: NC_000023.11:3084270:C:T
Gene:: ARSF (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000043/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000005/1 (GnomAD_exomes)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.3084271C>T, NC_000023.10:g.3002312C>T, NG_012822.2:g.49038C>T, NM_004042.5:c.435C>T, NM_004042.4:c.435C>T, NM_001201539.2:c.435C>T, NM_001201539.1:c.435C>T, NM_001201538.2:c.435C>T, NM_001201538.1:c.435C>T, XM_011545522.2:c.486C>T, XM_011545522.1:c.486C>T, XM_011545523.2:c.486C>T, XM_011545523.1:c.486C>T, XM_011545524.2:c.486C>T, XM_011545524.1:c.486C>T, XM_017029528.1:c.486C>T

Select item 145703065413.

rs1457030654 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:3112182 (GRCh38)
X:3030223 (GRCh37)
Canonical SPDI:: NC_000023.11:3112181:G:T
Gene:: ARSF (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.3112182G>T, NC_000023.10:g.3030223G>T, NG_012822.2:g.76949G>T, NM_004042.5:c.1399G>T, NM_004042.4:c.1399G>T, NM_001201539.2:c.1399G>T, NM_001201539.1:c.1399G>T, NM_001201538.2:c.1399G>T, NM_001201538.1:c.1399G>T, XM_011545522.2:c.1450G>T, XM_011545522.1:c.1450G>T, XM_011545523.2:c.1363G>T, XM_011545523.1:c.1363G>T, XM_011545524.2:c.1015G>T, XM_011545524.1:c.1015G>T, NP_004033.2:p.Val467Phe, NP_001188468.1:p.Val467Phe, NP_001188467.1:p.Val467Phe, XP_011543824.1:p.Val484Phe, XP_011543825.1:p.Val455Phe, XP_011543826.1:p.Val339Phe

Select item 145479769914.

rs1454797699 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:3089514 (GRCh38)
X:3007555 (GRCh37)
Canonical SPDI:: NC_000023.11:3089513:C:T
Gene:: ARSF (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.3089514C>T, NC_000023.10:g.3007555C>T, NG_012822.2:g.54281C>T, NM_004042.5:c.849C>T, NM_004042.4:c.849C>T, NM_001201539.2:c.849C>T, NM_001201539.1:c.849C>T, NM_001201538.2:c.849C>T, NM_001201538.1:c.849C>T, XM_011545522.2:c.900C>T, XM_011545522.1:c.900C>T

Select item 145162474115.

rs1451624741 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:3112417 (GRCh38)
X:3030458 (GRCh37)
Canonical SPDI:: NC_000023.11:3112416:T:C
Gene:: ARSF (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.3112417T>C, NC_000023.10:g.3030458T>C, NG_012822.2:g.77184T>C, NM_004042.5:c.1634T>C, NM_004042.4:c.1634T>C, NM_001201539.2:c.1634T>C, NM_001201539.1:c.1634T>C, NM_001201538.2:c.1634T>C, NM_001201538.1:c.1634T>C, XM_011545522.2:c.1685T>C, XM_011545522.1:c.1685T>C, XM_011545523.2:c.1598T>C, XM_011545523.1:c.1598T>C, XM_011545524.2:c.1250T>C, XM_011545524.1:c.1250T>C, NP_004033.2:p.Ile545Thr, NP_001188468.1:p.Ile545Thr, NP_001188467.1:p.Ile545Thr, XP_011543824.1:p.Ile562Thr, XP_011543825.1:p.Ile533Thr, XP_011543826.1:p.Ile417Thr

Select item 145052774316.

rs1450527743 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:3103893 (GRCh38)
X:3021934 (GRCh37)
Canonical SPDI:: NC_000023.11:3103892:T:A
Gene:: ARSF (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.3103893T>A, NC_000023.10:g.3021934T>A, NG_012822.2:g.68660T>A, NM_004042.5:c.1234T>A, NM_004042.4:c.1234T>A, NM_001201539.2:c.1234T>A, NM_001201539.1:c.1234T>A, NM_001201538.2:c.1234T>A, NM_001201538.1:c.1234T>A, XM_011545522.2:c.1285T>A, XM_011545522.1:c.1285T>A, XM_011545523.2:c.1198T>A, XM_011545523.1:c.1198T>A, NP_004033.2:p.Ser412Thr, NP_001188468.1:p.Ser412Thr, NP_001188467.1:p.Ser412Thr, XP_011543824.1:p.Ser429Thr, XP_011543825.1:p.Ser400Thr

Select item 144855777917.

rs1448557779 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:3101128 (GRCh38)
X:3019169 (GRCh37)
Canonical SPDI:: NC_000023.11:3101127:A:G
Gene:: ARSF (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.00001/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.3101128A>G, NC_000023.10:g.3019169A>G, NG_012822.2:g.65895A>G, NM_004042.5:c.1009A>G, NM_004042.4:c.1009A>G, NM_001201539.2:c.1009A>G, NM_001201539.1:c.1009A>G, NM_001201538.2:c.1009A>G, NM_001201538.1:c.1009A>G, XM_011545522.2:c.1060A>G, XM_011545522.1:c.1060A>G, XM_011545523.2:c.973A>G, XM_011545523.1:c.973A>G, XM_017029528.1:c.*29A>G, NP_004033.2:p.Asn337Asp, NP_001188468.1:p.Asn337Asp, NP_001188467.1:p.Asn337Asp, XP_011543824.1:p.Asn354Asp, XP_011543825.1:p.Asn325Asp

Select item 144804974918.

rs1448049749 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:3084431 (GRCh38)
X:3002472 (GRCh37)
Canonical SPDI:: NC_000023.11:3084430:G:T
Gene:: ARSF (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.3084431G>T, NC_000023.10:g.3002472G>T, NG_012822.2:g.49198G>T, NM_004042.5:c.595G>T, NM_004042.4:c.595G>T, NM_001201539.2:c.595G>T, NM_001201539.1:c.595G>T, NM_001201538.2:c.595G>T, NM_001201538.1:c.595G>T, XM_011545522.2:c.646G>T, XM_011545522.1:c.646G>T, XM_011545523.2:c.646G>T, XM_011545523.1:c.646G>T, XM_011545524.2:c.646G>T, XM_011545524.1:c.646G>T, XM_017029528.1:c.646G>T, NP_004033.2:p.Ala199Ser, NP_001188468.1:p.Ala199Ser, NP_001188467.1:p.Ala199Ser, XP_011543824.1:p.Ala216Ser, XP_011543825.1:p.Ala216Ser, XP_011543826.1:p.Ala216Ser, XP_016885017.1:p.Ala216Ser

Select item 144718033719.

rs1447180337 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: X:3084352 (GRCh38)
X:3002393 (GRCh37)
Canonical SPDI:: NC_000023.11:3084351:C:G,NC_000023.11:3084351:C:T
Gene:: ARSF (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.3084352C>G, NC_000023.11:g.3084352C>T, NC_000023.10:g.3002393C>G, NC_000023.10:g.3002393C>T, NG_012822.2:g.49119C>G, NG_012822.2:g.49119C>T, NM_004042.5:c.516C>G, NM_004042.5:c.516C>T, NM_004042.4:c.516C>G, NM_004042.4:c.516C>T, NM_001201539.2:c.516C>G, NM_001201539.2:c.516C>T, NM_001201539.1:c.516C>G, NM_001201539.1:c.516C>T, NM_001201538.2:c.516C>G, NM_001201538.2:c.516C>T, NM_001201538.1:c.516C>G, NM_001201538.1:c.516C>T, XM_011545522.2:c.567C>G, XM_011545522.2:c.567C>T, XM_011545522.1:c.567C>G, XM_011545522.1:c.567C>T, XM_011545523.2:c.567C>G, XM_011545523.2:c.567C>T, XM_011545523.1:c.567C>G, XM_011545523.1:c.567C>T, XM_011545524.2:c.567C>G, XM_011545524.2:c.567C>T, XM_011545524.1:c.567C>G, XM_011545524.1:c.567C>T, XM_017029528.1:c.567C>G, XM_017029528.1:c.567C>T, NP_004033.2:p.Ser172Arg, NP_001188468.1:p.Ser172Arg, NP_001188467.1:p.Ser172Arg, XP_011543824.1:p.Ser189Arg, XP_011543825.1:p.Ser189Arg, XP_011543826.1:p.Ser189Arg, XP_016885017.1:p.Ser189Arg

Select item 144615747920.

rs1446157479 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:3112528 (GRCh38)
X:3030569 (GRCh37)
Canonical SPDI:: NC_000023.11:3112527:A:G
Gene:: ARSF (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.3112528A>G, NC_000023.10:g.3030569A>G, NG_012822.2:g.77295A>G, NM_004042.5:c.1745A>G, NM_004042.4:c.1745A>G, NM_001201539.2:c.1745A>G, NM_001201539.1:c.1745A>G, NM_001201538.2:c.1745A>G, NM_001201538.1:c.1745A>G, XM_011545522.2:c.1796A>G, XM_011545522.1:c.1796A>G, XM_011545523.2:c.1709A>G, XM_011545523.1:c.1709A>G, XM_011545524.2:c.1361A>G, XM_011545524.1:c.1361A>G, NP_004033.2:p.Gln582Arg, NP_001188468.1:p.Gln582Arg, NP_001188467.1:p.Gln582Arg, XP_011543824.1:p.Gln599Arg, XP_011543825.1:p.Gln570Arg, XP_011543826.1:p.Gln454Arg

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