SNP Links for Protein (Select 111154099) - SNP - NCBI

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Links from Protein

Items: 1 to 20 of 675

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Select item 14869008631.

rs1486900863 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:85994938 (GRCh38)
4:86916091 (GRCh37)
Canonical SPDI:: NC_000004.12:85994937:G:A
Gene:: ARHGAP24 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.85994938G>A, NC_000004.11:g.86916091G>A, NG_051627.1:g.524808G>A, NM_031305.3:c.1005G>A, NM_031305.2:c.1005G>A, NM_001025616.3:c.1284G>A, NM_001025616.2:c.1284G>A, NM_001042669.2:c.999G>A, NM_001042669.1:c.999G>A, NM_001287805.2:c.1029G>A, NM_001287805.1:c.1029G>A, NM_001346093.2:c.705G>A, NM_001346093.1:c.705G>A, XM_011532300.3:c.999G>A, XM_011532300.2:c.999G>A, XM_011532300.1:c.999G>A, XM_024454238.2:c.999G>A, XM_024454238.1:c.999G>A, XM_047416235.1:c.999G>A

Select item 14862957092.

rs1486295709 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:85994848 (GRCh38)
4:86916001 (GRCh37)
Canonical SPDI:: NC_000004.12:85994847:C:G
Gene:: ARHGAP24 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.85994848C>G, NC_000004.11:g.86916001C>G, NG_051627.1:g.524718C>G, NM_031305.3:c.915C>G, NM_031305.2:c.915C>G, NM_001025616.3:c.1194C>G, NM_001025616.2:c.1194C>G, NM_001042669.2:c.909C>G, NM_001042669.1:c.909C>G, NM_001287805.2:c.939C>G, NM_001287805.1:c.939C>G, NM_001346093.2:c.615C>G, NM_001346093.1:c.615C>G, XM_011532300.3:c.909C>G, XM_011532300.2:c.909C>G, XM_011532300.1:c.909C>G, XM_024454238.2:c.909C>G, XM_024454238.1:c.909C>G, XM_047416235.1:c.909C>G, NP_112595.2:p.Ser305Arg, NP_001020787.2:p.Ser398Arg, NP_001036134.1:p.Ser303Arg, NP_001274734.1:p.Ser313Arg, NP_001333022.1:p.Ser205Arg, XP_011530602.1:p.Ser303Arg, XP_024310006.1:p.Ser303Arg, XP_047272191.1:p.Ser303Arg

Select item 14857499753.

rs1485749975 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:85995643 (GRCh38)
4:86916796 (GRCh37)
Canonical SPDI:: NC_000004.12:85995642:G:A
Gene:: ARHGAP24 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000004.12:g.85995643G>A, NC_000004.11:g.86916796G>A, NG_051627.1:g.525513G>A, NM_031305.3:c.1710G>A, NM_031305.2:c.1710G>A, NM_001025616.3:c.1989G>A, NM_001025616.2:c.1989G>A, NM_001042669.2:c.1704G>A, NM_001042669.1:c.1704G>A, NM_001287805.2:c.1734G>A, NM_001287805.1:c.1734G>A, NM_001346093.2:c.1410G>A, NM_001346093.1:c.1410G>A, XM_011532300.3:c.1704G>A, XM_011532300.2:c.1704G>A, XM_011532300.1:c.1704G>A, XM_024454238.2:c.1704G>A, XM_024454238.1:c.1704G>A, XM_047416235.1:c.1704G>A

Select item 14850950074.

rs1485095007 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:85994866 (GRCh38)
4:86916019 (GRCh37)
Canonical SPDI:: NC_000004.12:85994865:G:A
Gene:: ARHGAP24 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.85994866G>A, NC_000004.11:g.86916019G>A, NG_051627.1:g.524736G>A, NM_031305.3:c.933G>A, NM_031305.2:c.933G>A, NM_001025616.3:c.1212G>A, NM_001025616.2:c.1212G>A, NM_001042669.2:c.927G>A, NM_001042669.1:c.927G>A, NM_001287805.2:c.957G>A, NM_001287805.1:c.957G>A, NM_001346093.2:c.633G>A, NM_001346093.1:c.633G>A, XM_011532300.3:c.927G>A, XM_011532300.2:c.927G>A, XM_011532300.1:c.927G>A, XM_024454238.2:c.927G>A, XM_024454238.1:c.927G>A, XM_047416235.1:c.927G>A

Select item 14832923445.

rs1483292344 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:85995345 (GRCh38)
4:86916498 (GRCh37)
Canonical SPDI:: NC_000004.12:85995344:T:C
Gene:: ARHGAP24 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000004.12:g.85995345T>C, NC_000004.11:g.86916498T>C, NG_051627.1:g.525215T>C, NM_031305.3:c.1412T>C, NM_031305.2:c.1412T>C, NM_001025616.3:c.1691T>C, NM_001025616.2:c.1691T>C, NM_001042669.2:c.1406T>C, NM_001042669.1:c.1406T>C, NM_001287805.2:c.1436T>C, NM_001287805.1:c.1436T>C, NM_001346093.2:c.1112T>C, NM_001346093.1:c.1112T>C, XM_011532300.3:c.1406T>C, XM_011532300.2:c.1406T>C, XM_011532300.1:c.1406T>C, XM_024454238.2:c.1406T>C, XM_024454238.1:c.1406T>C, XM_047416235.1:c.1406T>C, NP_112595.2:p.Leu471Pro, NP_001020787.2:p.Leu564Pro, NP_001036134.1:p.Leu469Pro, NP_001274734.1:p.Leu479Pro, NP_001333022.1:p.Leu371Pro, XP_011530602.1:p.Leu469Pro, XP_024310006.1:p.Leu469Pro, XP_047272191.1:p.Leu469Pro

Select item 14827005436.

rs1482700543 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:85995346 (GRCh38)
4:86916499 (GRCh37)
Canonical SPDI:: NC_000004.12:85995345:C:T
Gene:: ARHGAP24 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.85995346C>T, NC_000004.11:g.86916499C>T, NG_051627.1:g.525216C>T, NM_031305.3:c.1413C>T, NM_031305.2:c.1413C>T, NM_001025616.3:c.1692C>T, NM_001025616.2:c.1692C>T, NM_001042669.2:c.1407C>T, NM_001042669.1:c.1407C>T, NM_001287805.2:c.1437C>T, NM_001287805.1:c.1437C>T, NM_001346093.2:c.1113C>T, NM_001346093.1:c.1113C>T, XM_011532300.3:c.1407C>T, XM_011532300.2:c.1407C>T, XM_011532300.1:c.1407C>T, XM_024454238.2:c.1407C>T, XM_024454238.1:c.1407C>T, XM_047416235.1:c.1407C>T

Select item 14820019477.

rs1482001947 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:85995324 (GRCh38)
4:86916477 (GRCh37)
Canonical SPDI:: NC_000004.12:85995323:C:T
Gene:: ARHGAP24 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.85995324C>T, NC_000004.11:g.86916477C>T, NG_051627.1:g.525194C>T, NM_031305.3:c.1391C>T, NM_031305.2:c.1391C>T, NM_001025616.3:c.1670C>T, NM_001025616.2:c.1670C>T, NM_001042669.2:c.1385C>T, NM_001042669.1:c.1385C>T, NM_001287805.2:c.1415C>T, NM_001287805.1:c.1415C>T, NM_001346093.2:c.1091C>T, NM_001346093.1:c.1091C>T, XM_011532300.3:c.1385C>T, XM_011532300.2:c.1385C>T, XM_011532300.1:c.1385C>T, XM_024454238.2:c.1385C>T, XM_024454238.1:c.1385C>T, XM_047416235.1:c.1385C>T, NP_112595.2:p.Thr464Ile, NP_001020787.2:p.Thr557Ile, NP_001036134.1:p.Thr462Ile, NP_001274734.1:p.Thr472Ile, NP_001333022.1:p.Thr364Ile, XP_011530602.1:p.Thr462Ile, XP_024310006.1:p.Thr462Ile, XP_047272191.1:p.Thr462Ile

Select item 14803839608.

rs1480383960 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:85930985 (GRCh38)
4:86852138 (GRCh37)
Canonical SPDI:: NC_000004.12:85930984:C:A
Gene:: ARHGAP24 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.85930985C>A, NC_000004.11:g.86852138C>A, NG_051627.1:g.460855C>A, NM_031305.3:c.55C>A, NM_031305.2:c.55C>A, NP_112595.2:p.Pro19Thr

Select item 14772219389.

rs1477221938 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:85995144 (GRCh38)
4:86916297 (GRCh37)
Canonical SPDI:: NC_000004.12:85995143:A:G
Gene:: ARHGAP24 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000012/3 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000004.12:g.85995144A>G, NC_000004.11:g.86916297A>G, NG_051627.1:g.525014A>G, NM_031305.3:c.1211A>G, NM_031305.2:c.1211A>G, NM_001025616.3:c.1490A>G, NM_001025616.2:c.1490A>G, NM_001042669.2:c.1205A>G, NM_001042669.1:c.1205A>G, NM_001287805.2:c.1235A>G, NM_001287805.1:c.1235A>G, NM_001346093.2:c.911A>G, NM_001346093.1:c.911A>G, XM_011532300.3:c.1205A>G, XM_011532300.2:c.1205A>G, XM_011532300.1:c.1205A>G, XM_024454238.2:c.1205A>G, XM_024454238.1:c.1205A>G, XM_047416235.1:c.1205A>G, NP_112595.2:p.Asn404Ser, NP_001020787.2:p.Asn497Ser, NP_001036134.1:p.Asn402Ser, NP_001274734.1:p.Asn412Ser, NP_001333022.1:p.Asn304Ser, XP_011530602.1:p.Asn402Ser, XP_024310006.1:p.Asn402Ser, XP_047272191.1:p.Asn402Ser

Select item 147719076410.

rs1477190764 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 4:86000649 (GRCh38)
4:86921802 (GRCh37)
Canonical SPDI:: NC_000004.12:86000648:T:A,NC_000004.12:86000648:T:C
Gene:: ARHGAP24 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.86000649T>A, NC_000004.12:g.86000649T>C, NC_000004.11:g.86921802T>A, NC_000004.11:g.86921802T>C, NG_051627.1:g.530519T>A, NG_051627.1:g.530519T>C, NM_031305.3:c.1895T>A, NM_031305.3:c.1895T>C, NM_031305.2:c.1895T>A, NM_031305.2:c.1895T>C, NM_001025616.3:c.2174T>A, NM_001025616.3:c.2174T>C, NM_001025616.2:c.2174T>A, NM_001025616.2:c.2174T>C, NM_001042669.2:c.1889T>A, NM_001042669.2:c.1889T>C, NM_001042669.1:c.1889T>A, NM_001042669.1:c.1889T>C, NM_001287805.2:c.1919T>A, NM_001287805.2:c.1919T>C, NM_001287805.1:c.1919T>A, NM_001287805.1:c.1919T>C, NM_001346093.2:c.1595T>A, NM_001346093.2:c.1595T>C, NM_001346093.1:c.1595T>A, NM_001346093.1:c.1595T>C, XM_011532300.3:c.1889T>A, XM_011532300.3:c.1889T>C, XM_011532300.2:c.1889T>A, XM_011532300.2:c.1889T>C, XM_011532300.1:c.1889T>A, XM_011532300.1:c.1889T>C, XM_024454238.2:c.1889T>A, XM_024454238.2:c.1889T>C, XM_024454238.1:c.1889T>A, XM_024454238.1:c.1889T>C, XM_047416235.1:c.1889T>A, XM_047416235.1:c.1889T>C, NP_112595.2:p.Phe632Tyr, NP_112595.2:p.Phe632Ser, NP_001020787.2:p.Phe725Tyr, NP_001020787.2:p.Phe725Ser, NP_001036134.1:p.Phe630Tyr, NP_001036134.1:p.Phe630Ser, NP_001274734.1:p.Phe640Tyr, NP_001274734.1:p.Phe640Ser, NP_001333022.1:p.Phe532Tyr, NP_001333022.1:p.Phe532Ser, XP_011530602.1:p.Phe630Tyr, XP_011530602.1:p.Phe630Ser, XP_024310006.1:p.Phe630Tyr, XP_024310006.1:p.Phe630Ser, XP_047272191.1:p.Phe630Tyr, XP_047272191.1:p.Phe630Ser

Select item 147566668011.

rs1475666680 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 4:85995081 (GRCh38)
4:86916234 (GRCh37)
Canonical SPDI:: NC_000004.12:85995080:G:A,NC_000004.12:85995080:G:C
Gene:: ARHGAP24 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.85995081G>A, NC_000004.12:g.85995081G>C, NC_000004.11:g.86916234G>A, NC_000004.11:g.86916234G>C, NG_051627.1:g.524951G>A, NG_051627.1:g.524951G>C, NM_031305.3:c.1148G>A, NM_031305.3:c.1148G>C, NM_031305.2:c.1148G>A, NM_031305.2:c.1148G>C, NM_001025616.3:c.1427G>A, NM_001025616.3:c.1427G>C, NM_001025616.2:c.1427G>A, NM_001025616.2:c.1427G>C, NM_001042669.2:c.1142G>A, NM_001042669.2:c.1142G>C, NM_001042669.1:c.1142G>A, NM_001042669.1:c.1142G>C, NM_001287805.2:c.1172G>A, NM_001287805.2:c.1172G>C, NM_001287805.1:c.1172G>A, NM_001287805.1:c.1172G>C, NM_001346093.2:c.848G>A, NM_001346093.2:c.848G>C, NM_001346093.1:c.848G>A, NM_001346093.1:c.848G>C, XM_011532300.3:c.1142G>A, XM_011532300.3:c.1142G>C, XM_011532300.2:c.1142G>A, XM_011532300.2:c.1142G>C, XM_011532300.1:c.1142G>A, XM_011532300.1:c.1142G>C, XM_024454238.2:c.1142G>A, XM_024454238.2:c.1142G>C, XM_024454238.1:c.1142G>A, XM_024454238.1:c.1142G>C, XM_047416235.1:c.1142G>A, XM_047416235.1:c.1142G>C, NP_112595.2:p.Ser383Asn, NP_112595.2:p.Ser383Thr, NP_001020787.2:p.Ser476Asn, NP_001020787.2:p.Ser476Thr, NP_001036134.1:p.Ser381Asn, NP_001036134.1:p.Ser381Thr, NP_001274734.1:p.Ser391Asn, NP_001274734.1:p.Ser391Thr, NP_001333022.1:p.Ser283Asn, NP_001333022.1:p.Ser283Thr, XP_011530602.1:p.Ser381Asn, XP_011530602.1:p.Ser381Thr, XP_024310006.1:p.Ser381Asn, XP_024310006.1:p.Ser381Thr, XP_047272191.1:p.Ser381Asn, XP_047272191.1:p.Ser381Thr

Select item 147528805612.

rs1475288056 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 4:86000706 (GRCh38)
4:86921859 (GRCh37)
Canonical SPDI:: NC_000004.12:86000702:ACACA:ACA
Gene:: ARHGAP24 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000019/5 (TOPMED)
HGVS:: NC_000004.12:g.86000704CA[1], NC_000004.11:g.86921857CA[1], NG_051627.1:g.530574CA[1], NM_031305.3:c.1952_1953del, NM_031305.2:c.1952_1953del, NM_001025616.3:c.2231_2232del, NM_001025616.2:c.2231_2232del, NM_001042669.2:c.1946_1947del, NM_001042669.1:c.1946_1947del, NM_001287805.2:c.1976_1977del, NM_001287805.1:c.1976_1977del, NM_001346093.2:c.1652_1653del, NM_001346093.1:c.1652_1653del, XM_011532300.3:c.1946_1947del, XM_011532300.2:c.1946_1947del, XM_011532300.1:c.1946_1947del, XM_024454238.2:c.1946_1947del, XM_024454238.1:c.1946_1947del, XM_047416235.1:c.1946_1947del, NP_112595.2:p.Thr651fs, NP_001020787.2:p.Thr744fs, NP_001036134.1:p.Thr649fs, NP_001274734.1:p.Thr659fs, NP_001333022.1:p.Thr551fs, XP_011530602.1:p.Thr649fs, XP_024310006.1:p.Thr649fs, XP_047272191.1:p.Thr649fs

Select item 147443837913.

rs1474438379 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:85995084 (GRCh38)
4:86916237 (GRCh37)
Canonical SPDI:: NC_000004.12:85995083:T:C
Gene:: ARHGAP24 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000004.12:g.85995084T>C, NC_000004.11:g.86916237T>C, NG_051627.1:g.524954T>C, NM_031305.3:c.1151T>C, NM_031305.2:c.1151T>C, NM_001025616.3:c.1430T>C, NM_001025616.2:c.1430T>C, NM_001042669.2:c.1145T>C, NM_001042669.1:c.1145T>C, NM_001287805.2:c.1175T>C, NM_001287805.1:c.1175T>C, NM_001346093.2:c.851T>C, NM_001346093.1:c.851T>C, XM_011532300.3:c.1145T>C, XM_011532300.2:c.1145T>C, XM_011532300.1:c.1145T>C, XM_024454238.2:c.1145T>C, XM_024454238.1:c.1145T>C, XM_047416235.1:c.1145T>C, NP_112595.2:p.Val384Ala, NP_001020787.2:p.Val477Ala, NP_001036134.1:p.Val382Ala, NP_001274734.1:p.Val392Ala, NP_001333022.1:p.Val284Ala, XP_011530602.1:p.Val382Ala, XP_024310006.1:p.Val382Ala, XP_047272191.1:p.Val382Ala

Select item 147331507914.

rs1473315079 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 4:85942211 (GRCh38)
4:86863364 (GRCh37)
Canonical SPDI:: NC_000004.12:85942210:G:C,NC_000004.12:85942210:G:T
Gene:: ARHGAP24 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000004.12:g.85942211G>C, NC_000004.12:g.85942211G>T, NC_000004.11:g.86863364G>C, NC_000004.11:g.86863364G>T, NG_051627.1:g.472081G>C, NG_051627.1:g.472081G>T, NM_031305.3:c.258G>C, NM_031305.3:c.258G>T, NM_031305.2:c.258G>C, NM_031305.2:c.258G>T, NM_001025616.3:c.537G>C, NM_001025616.3:c.537G>T, NM_001025616.2:c.537G>C, NM_001025616.2:c.537G>T, NM_001042669.2:c.252G>C, NM_001042669.2:c.252G>T, NM_001042669.1:c.252G>C, NM_001042669.1:c.252G>T, NM_001287805.2:c.282G>C, NM_001287805.2:c.282G>T, NM_001287805.1:c.282G>C, NM_001287805.1:c.282G>T, XM_011532300.3:c.252G>C, XM_011532300.3:c.252G>T, XM_011532300.2:c.252G>C, XM_011532300.2:c.252G>T, XM_011532300.1:c.252G>C, XM_011532300.1:c.252G>T, XM_024454238.2:c.252G>C, XM_024454238.2:c.252G>T, XM_024454238.1:c.252G>C, XM_024454238.1:c.252G>T, XM_047416235.1:c.252G>C, XM_047416235.1:c.252G>T, NP_112595.2:p.Gln86His, NP_112595.2:p.Gln86His, NP_001020787.2:p.Gln179His, NP_001020787.2:p.Gln179His, NP_001036134.1:p.Gln84His, NP_001036134.1:p.Gln84His, NP_001274734.1:p.Gln94His, NP_001274734.1:p.Gln94His, XP_011530602.1:p.Gln84His, XP_011530602.1:p.Gln84His, XP_024310006.1:p.Gln84His, XP_024310006.1:p.Gln84His, XP_047272191.1:p.Gln84His, XP_047272191.1:p.Gln84His

Select item 147178428915.

rs1471784289 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:85995516 (GRCh38)
4:86916669 (GRCh37)
Canonical SPDI:: NC_000004.12:85995515:G:A
Gene:: ARHGAP24 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.85995516G>A, NC_000004.11:g.86916669G>A, NG_051627.1:g.525386G>A, NM_031305.3:c.1583G>A, NM_031305.2:c.1583G>A, NM_001025616.3:c.1862G>A, NM_001025616.2:c.1862G>A, NM_001042669.2:c.1577G>A, NM_001042669.1:c.1577G>A, NM_001287805.2:c.1607G>A, NM_001287805.1:c.1607G>A, NM_001346093.2:c.1283G>A, NM_001346093.1:c.1283G>A, XM_011532300.3:c.1577G>A, XM_011532300.2:c.1577G>A, XM_011532300.1:c.1577G>A, XM_024454238.2:c.1577G>A, XM_024454238.1:c.1577G>A, XM_047416235.1:c.1577G>A, NP_112595.2:p.Ser528Asn, NP_001020787.2:p.Ser621Asn, NP_001036134.1:p.Ser526Asn, NP_001274734.1:p.Ser536Asn, NP_001333022.1:p.Ser428Asn, XP_011530602.1:p.Ser526Asn, XP_024310006.1:p.Ser526Asn, XP_047272191.1:p.Ser526Asn

Select item 146969147716.

rs1469691477 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:85974914 (GRCh38)
4:86896067 (GRCh37)
Canonical SPDI:: NC_000004.12:85974913:G:A
Gene:: ARHGAP24 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.85974914G>A, NC_000004.11:g.86896067G>A, NG_051627.1:g.504784G>A, NM_031305.3:c.480G>A, NM_031305.2:c.480G>A, NM_001025616.3:c.759G>A, NM_001025616.2:c.759G>A, NM_001042669.2:c.474G>A, NM_001042669.1:c.474G>A, NM_001287805.2:c.504G>A, NM_001287805.1:c.504G>A, NM_001346093.2:c.180G>A, NM_001346093.1:c.180G>A, XM_011532300.3:c.474G>A, XM_011532300.2:c.474G>A, XM_011532300.1:c.474G>A, XM_024454238.2:c.474G>A, XM_024454238.1:c.474G>A, XM_047416235.1:c.474G>A

Select item 146955639517.

rs1469556395 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:85995176 (GRCh38)
4:86916329 (GRCh37)
Canonical SPDI:: NC_000004.12:85995175:T:A
Gene:: ARHGAP24 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.85995176T>A, NC_000004.11:g.86916329T>A, NG_051627.1:g.525046T>A, NM_031305.3:c.1243T>A, NM_031305.2:c.1243T>A, NM_001025616.3:c.1522T>A, NM_001025616.2:c.1522T>A, NM_001042669.2:c.1237T>A, NM_001042669.1:c.1237T>A, NM_001287805.2:c.1267T>A, NM_001287805.1:c.1267T>A, NM_001346093.2:c.943T>A, NM_001346093.1:c.943T>A, XM_011532300.3:c.1237T>A, XM_011532300.2:c.1237T>A, XM_011532300.1:c.1237T>A, XM_024454238.2:c.1237T>A, XM_024454238.1:c.1237T>A, XM_047416235.1:c.1237T>A, NP_112595.2:p.Tyr415Asn, NP_001020787.2:p.Tyr508Asn, NP_001036134.1:p.Tyr413Asn, NP_001274734.1:p.Tyr423Asn, NP_001333022.1:p.Tyr315Asn, XP_011530602.1:p.Tyr413Asn, XP_024310006.1:p.Tyr413Asn, XP_047272191.1:p.Tyr413Asn

Select item 146763330518.

rs1467633305 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 4:85972116 (GRCh38)
4:86893269 (GRCh37)
Canonical SPDI:: NC_000004.12:85972115:A:C,NC_000004.12:85972115:A:G
Gene:: ARHGAP24 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000056/2 (ALFA)
G=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.85972116A>C, NC_000004.12:g.85972116A>G, NC_000004.11:g.86893269A>C, NC_000004.11:g.86893269A>G, NG_051627.1:g.501986A>C, NG_051627.1:g.501986A>G, NM_031305.3:c.401A>C, NM_031305.3:c.401A>G, NM_031305.2:c.401A>C, NM_031305.2:c.401A>G, NM_001025616.3:c.680A>C, NM_001025616.3:c.680A>G, NM_001025616.2:c.680A>C, NM_001025616.2:c.680A>G, NM_001042669.2:c.395A>C, NM_001042669.2:c.395A>G, NM_001042669.1:c.395A>C, NM_001042669.1:c.395A>G, NM_001287805.2:c.425A>C, NM_001287805.2:c.425A>G, NM_001287805.1:c.425A>C, NM_001287805.1:c.425A>G, NM_001346093.2:c.101A>C, NM_001346093.2:c.101A>G, NM_001346093.1:c.101A>C, NM_001346093.1:c.101A>G, XM_011532300.3:c.395A>C, XM_011532300.3:c.395A>G, XM_011532300.2:c.395A>C, XM_011532300.2:c.395A>G, XM_011532300.1:c.395A>C, XM_011532300.1:c.395A>G, XM_024454238.2:c.395A>C, XM_024454238.2:c.395A>G, XM_024454238.1:c.395A>C, XM_024454238.1:c.395A>G, XM_047416235.1:c.395A>C, XM_047416235.1:c.395A>G, NP_112595.2:p.Lys134Thr, NP_112595.2:p.Lys134Arg, NP_001020787.2:p.Lys227Thr, NP_001020787.2:p.Lys227Arg, NP_001036134.1:p.Lys132Thr, NP_001036134.1:p.Lys132Arg, NP_001274734.1:p.Lys142Thr, NP_001274734.1:p.Lys142Arg, NP_001333022.1:p.Lys34Thr, NP_001333022.1:p.Lys34Arg, XP_011530602.1:p.Lys132Thr, XP_011530602.1:p.Lys132Arg, XP_024310006.1:p.Lys132Thr, XP_024310006.1:p.Lys132Arg, XP_047272191.1:p.Lys132Thr, XP_047272191.1:p.Lys132Arg

Select item 146718429719.

rs1467184297 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:85977596 (GRCh38)
4:86898749 (GRCh37)
Canonical SPDI:: NC_000004.12:85977595:C:T
Gene:: ARHGAP24 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.85977596C>T, NC_000004.11:g.86898749C>T, NG_051627.1:g.507466C>T, NM_031305.3:c.554C>T, NM_031305.2:c.554C>T, NM_001025616.3:c.833C>T, NM_001025616.2:c.833C>T, NM_001042669.2:c.548C>T, NM_001042669.1:c.548C>T, NM_001287805.2:c.578C>T, NM_001287805.1:c.578C>T, NM_001346093.2:c.254C>T, NM_001346093.1:c.254C>T, XM_011532300.3:c.548C>T, XM_011532300.2:c.548C>T, XM_011532300.1:c.548C>T, XM_024454238.2:c.548C>T, XM_024454238.1:c.548C>T, XM_047416235.1:c.548C>T, NP_112595.2:p.Ser185Leu, NP_001020787.2:p.Ser278Leu, NP_001036134.1:p.Ser183Leu, NP_001274734.1:p.Ser193Leu, NP_001333022.1:p.Ser85Leu, XP_011530602.1:p.Ser183Leu, XP_024310006.1:p.Ser183Leu, XP_047272191.1:p.Ser183Leu

Select item 146707018920.

rs1467070189 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 4:85994628 (GRCh38)
4:86915781 (GRCh37)
Canonical SPDI:: NC_000004.12:85994627:A:C,NC_000004.12:85994627:A:G
Gene:: ARHGAP24 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00007/1 (ALFA)
HGVS:: NC_000004.12:g.85994628A>C, NC_000004.12:g.85994628A>G, NC_000004.11:g.86915781A>C, NC_000004.11:g.86915781A>G, NG_051627.1:g.524498A>C, NG_051627.1:g.524498A>G, NM_031305.3:c.695A>C, NM_031305.3:c.695A>G, NM_031305.2:c.695A>C, NM_031305.2:c.695A>G, NM_001025616.3:c.974A>C, NM_001025616.3:c.974A>G, NM_001025616.2:c.974A>C, NM_001025616.2:c.974A>G, NM_001042669.2:c.689A>C, NM_001042669.2:c.689A>G, NM_001042669.1:c.689A>C, NM_001042669.1:c.689A>G, NM_001287805.2:c.719A>C, NM_001287805.2:c.719A>G, NM_001287805.1:c.719A>C, NM_001287805.1:c.719A>G, NM_001346093.2:c.395A>C, NM_001346093.2:c.395A>G, NM_001346093.1:c.395A>C, NM_001346093.1:c.395A>G, XM_011532300.3:c.689A>C, XM_011532300.3:c.689A>G, XM_011532300.2:c.689A>C, XM_011532300.2:c.689A>G, XM_011532300.1:c.689A>C, XM_011532300.1:c.689A>G, XM_024454238.2:c.689A>C, XM_024454238.2:c.689A>G, XM_024454238.1:c.689A>C, XM_024454238.1:c.689A>G, XM_047416235.1:c.689A>C, XM_047416235.1:c.689A>G, NP_112595.2:p.His232Pro, NP_112595.2:p.His232Arg, NP_001020787.2:p.His325Pro, NP_001020787.2:p.His325Arg, NP_001036134.1:p.His230Pro, NP_001036134.1:p.His230Arg, NP_001274734.1:p.His240Pro, NP_001274734.1:p.His240Arg, NP_001333022.1:p.His132Pro, NP_001333022.1:p.His132Arg, XP_011530602.1:p.His230Pro, XP_011530602.1:p.His230Arg, XP_024310006.1:p.His230Pro, XP_024310006.1:p.His230Arg, XP_047272191.1:p.His230Pro, XP_047272191.1:p.His230Arg

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