SNP Links for Protein (Select 71040096) - SNP

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Links from Protein

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Select item 14909984501.

rs1490998450 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:161059695 (GRCh38)
1:161029485 (GRCh37)
Canonical SPDI:: NC_000001.11:161059694:C:G
Gene:: ARHGAP30 (Varview)
Functional Consequence:: intron_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.161059695C>G, NC_000001.10:g.161029485C>G, XM_005245070.3:c.119G>C, XM_005245070.2:c.119G>C, XM_005245070.1:c.119G>C, NM_181720.3:c.119G>C, NM_181720.2:c.119G>C, NM_001025598.2:c.119G>C, NM_001025598.1:c.119G>C, NM_001287600.2:c.-181G>C, NM_001287600.1:c.-181G>C, XP_005245127.1:p.Cys40Ser, NP_859071.2:p.Cys40Ser, NP_001020769.1:p.Cys40Ser

Select item 14904948992.

rs1490494899 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:161048186 (GRCh38)
1:161017976 (GRCh37)
Canonical SPDI:: NC_000001.11:161048185:C:G,NC_000001.11:161048185:C:T
Gene:: ARHGAP30 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.161048186C>G, NC_000001.11:g.161048186C>T, NC_000001.10:g.161017976C>G, NC_000001.10:g.161017976C>T, NG_011612.1:g.2782G>C, NG_011612.1:g.2782G>A, XM_005245073.4:c.2391G>C, XM_005245073.4:c.2391G>A, XM_005245073.3:c.2391G>C, XM_005245073.3:c.2391G>A, XM_005245073.2:c.2391G>C, XM_005245073.2:c.2391G>A, XM_005245073.1:c.2391G>C, XM_005245073.1:c.2391G>A, XM_011509391.3:c.2391G>C, XM_011509391.3:c.2391G>A, XM_011509391.2:c.2391G>C, XM_011509391.2:c.2391G>A, XM_011509391.1:c.2391G>C, XM_011509391.1:c.2391G>A, XM_005245070.3:c.2664G>C, XM_005245070.3:c.2664G>A, XM_005245070.2:c.2664G>C, XM_005245070.2:c.2664G>A, XM_005245070.1:c.2664G>C, XM_005245070.1:c.2664G>A, NM_181720.3:c.2202G>C, NM_181720.3:c.2202G>A, NM_181720.2:c.2202G>C, NM_181720.2:c.2202G>A, NM_001025598.2:c.2835G>C, NM_001025598.2:c.2835G>A, NM_001025598.1:c.2835G>C, NM_001025598.1:c.2835G>A, NM_001287600.2:c.2391G>C, NM_001287600.2:c.2391G>A, NM_001287600.1:c.2391G>C, NM_001287600.1:c.2391G>A, NM_001287602.2:c.2304G>C, NM_001287602.2:c.2304G>A, NM_001287602.1:c.2304G>C, NM_001287602.1:c.2304G>A, XM_047417140.1:c.2220G>C, XM_047417140.1:c.2220G>A, XP_005245130.1:p.Gln797His, XP_011507693.1:p.Gln797His, XP_005245127.1:p.Gln888His, NP_859071.2:p.Gln734His, NP_001020769.1:p.Gln945His, NP_001274529.1:p.Gln797His, NP_001274531.1:p.Gln768His, XP_047273096.1:p.Gln740His

Select item 14902254273.

rs1490225427 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:161051449 (GRCh38)
1:161021239 (GRCh37)
Canonical SPDI:: NC_000001.11:161051448:T:C
Gene:: ARHGAP30 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000064/16 (GnomAD_exomes)
C=0.000253/67 (TOPMED)
C=0.000314/44 (GnomAD)
HGVS:: NC_000001.11:g.161051449T>C, NC_000001.10:g.161021239T>C, XM_005245073.4:c.841A>G, XM_005245073.3:c.841A>G, XM_005245073.2:c.841A>G, XM_005245073.1:c.841A>G, XM_011509391.3:c.841A>G, XM_011509391.2:c.841A>G, XM_011509391.1:c.841A>G, XM_005245070.3:c.1285A>G, XM_005245070.2:c.1285A>G, XM_005245070.1:c.1285A>G, NM_181720.3:c.1285A>G, NM_181720.2:c.1285A>G, NM_001025598.2:c.1285A>G, NM_001025598.1:c.1285A>G, NM_001287600.2:c.841A>G, NM_001287600.1:c.841A>G, NM_001287602.2:c.754A>G, NM_001287602.1:c.754A>G, XM_047417140.1:c.841A>G, XP_005245130.1:p.Ser281Gly, XP_011507693.1:p.Ser281Gly, XP_005245127.1:p.Ser429Gly, NP_859071.2:p.Ser429Gly, NP_001020769.1:p.Ser429Gly, NP_001274529.1:p.Ser281Gly, NP_001274531.1:p.Ser252Gly, XP_047273096.1:p.Ser281Gly

Select item 14898419854.

rs1489841985 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:161051401 (GRCh38)
1:161021191 (GRCh37)
Canonical SPDI:: NC_000001.11:161051400:G:A
Gene:: ARHGAP30 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.161051401G>A, NC_000001.10:g.161021191G>A, XM_005245073.4:c.889C>T, XM_005245073.3:c.889C>T, XM_005245073.2:c.889C>T, XM_005245073.1:c.889C>T, XM_011509391.3:c.889C>T, XM_011509391.2:c.889C>T, XM_011509391.1:c.889C>T, XM_005245070.3:c.1333C>T, XM_005245070.2:c.1333C>T, XM_005245070.1:c.1333C>T, NM_181720.3:c.1333C>T, NM_181720.2:c.1333C>T, NM_001025598.2:c.1333C>T, NM_001025598.1:c.1333C>T, NM_001287600.2:c.889C>T, NM_001287600.1:c.889C>T, NM_001287602.2:c.802C>T, NM_001287602.1:c.802C>T, XM_047417140.1:c.889C>T, XP_005245130.1:p.Arg297Cys, XP_011507693.1:p.Arg297Cys, XP_005245127.1:p.Arg445Cys, NP_859071.2:p.Arg445Cys, NP_001020769.1:p.Arg445Cys, NP_001274529.1:p.Arg297Cys, NP_001274531.1:p.Arg268Cys, XP_047273096.1:p.Arg297Cys

Select item 14893592075.

rs1489359207 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:161048201 (GRCh38)
1:161017991 (GRCh37)
Canonical SPDI:: NC_000001.11:161048200:C:G
Gene:: ARHGAP30 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000084/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.161048201C>G, NC_000001.10:g.161017991C>G, NG_011612.1:g.2767G>C, XM_005245073.4:c.2376G>C, XM_005245073.3:c.2376G>C, XM_005245073.2:c.2376G>C, XM_005245073.1:c.2376G>C, XM_011509391.3:c.2376G>C, XM_011509391.2:c.2376G>C, XM_011509391.1:c.2376G>C, XM_005245070.3:c.2649G>C, XM_005245070.2:c.2649G>C, XM_005245070.1:c.2649G>C, NM_181720.3:c.2187G>C, NM_181720.2:c.2187G>C, NM_001025598.2:c.2820G>C, NM_001025598.1:c.2820G>C, NM_001287600.2:c.2376G>C, NM_001287600.1:c.2376G>C, NM_001287602.2:c.2289G>C, NM_001287602.1:c.2289G>C, XM_047417140.1:c.2205G>C

Select item 14893129456.

rs1489312945 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:161051457 (GRCh38)
1:161021247 (GRCh37)
Canonical SPDI:: NC_000001.11:161051456:G:T
Gene:: ARHGAP30 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.161051457G>T, NC_000001.10:g.161021247G>T, XM_005245073.4:c.833C>A, XM_005245073.3:c.833C>A, XM_005245073.2:c.833C>A, XM_005245073.1:c.833C>A, XM_011509391.3:c.833C>A, XM_011509391.2:c.833C>A, XM_011509391.1:c.833C>A, XM_005245070.3:c.1277C>A, XM_005245070.2:c.1277C>A, XM_005245070.1:c.1277C>A, NM_181720.3:c.1277C>A, NM_181720.2:c.1277C>A, NM_001025598.2:c.1277C>A, NM_001025598.1:c.1277C>A, NM_001287600.2:c.833C>A, NM_001287600.1:c.833C>A, NM_001287602.2:c.746C>A, NM_001287602.1:c.746C>A, XM_047417140.1:c.833C>A, XP_005245130.1:p.Ser278Tyr, XP_011507693.1:p.Ser278Tyr, XP_005245127.1:p.Ser426Tyr, NP_859071.2:p.Ser426Tyr, NP_001020769.1:p.Ser426Tyr, NP_001274529.1:p.Ser278Tyr, NP_001274531.1:p.Ser249Tyr, XP_047273096.1:p.Ser278Tyr

Select item 14856159517.

rs1485615951 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:161056493 (GRCh38)
1:161026283 (GRCh37)
Canonical SPDI:: NC_000001.11:161056492:C:T
Gene:: ARHGAP30 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.161056493C>T, NC_000001.10:g.161026283C>T, XM_011509391.3:c.-205G>A, XM_011509391.2:c.-205G>A, XM_011509391.1:c.-205G>A, XM_005245070.3:c.240G>A, XM_005245070.2:c.240G>A, XM_005245070.1:c.240G>A, NM_181720.3:c.240G>A, NM_181720.2:c.240G>A, NM_001025598.2:c.240G>A, NM_001025598.1:c.240G>A, XM_047417140.1:c.-205G>A

Select item 14843629148.

rs1484362914 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:161051315 (GRCh38)
1:161021105 (GRCh37)
Canonical SPDI:: NC_000001.11:161051314:T:C
Gene:: ARHGAP30 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.161051315T>C, NC_000001.10:g.161021105T>C, XM_005245073.4:c.975A>G, XM_005245073.3:c.975A>G, XM_005245073.2:c.975A>G, XM_005245073.1:c.975A>G, XM_011509391.3:c.975A>G, XM_011509391.2:c.975A>G, XM_011509391.1:c.975A>G, XM_005245070.3:c.1419A>G, XM_005245070.2:c.1419A>G, XM_005245070.1:c.1419A>G, NM_181720.3:c.1419A>G, NM_181720.2:c.1419A>G, NM_001025598.2:c.1419A>G, NM_001025598.1:c.1419A>G, NM_001287600.2:c.975A>G, NM_001287600.1:c.975A>G, NM_001287602.2:c.888A>G, NM_001287602.1:c.888A>G, XM_047417140.1:c.975A>G

Select item 14840023599.

rs1484002359 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 1:161049147 (GRCh38)
1:161018937 (GRCh37)
Canonical SPDI:: NC_000001.11:161049146:GGGGG:GGGG
Gene:: ARHGAP30 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: GGGG=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.161049151del, NC_000001.10:g.161018941del, NG_011612.1:g.1821del, XM_005245073.4:c.1430del, XM_005245073.3:c.1430del, XM_005245073.2:c.1430del, XM_005245073.1:c.1430del, XM_011509391.3:c.1430del, XM_011509391.2:c.1430del, XM_011509391.1:c.1430del, XM_005245070.3:c.1703del, XM_005245070.2:c.1703del, XM_005245070.1:c.1703del, NM_181720.3:c.1874del, NM_181720.2:c.1874del, NM_001025598.2:c.1874del, NM_001025598.1:c.1874del, NM_001287600.2:c.1430del, NM_001287600.1:c.1430del, NM_001287602.2:c.1343del, NM_001287602.1:c.1343del, XM_047417140.1:c.1259del, XP_005245130.1:p.Pro477fs, XP_011507693.1:p.Pro477fs, XP_005245127.1:p.Pro568fs, NP_859071.2:p.Pro625fs, NP_001020769.1:p.Pro625fs, NP_001274529.1:p.Pro477fs, NP_001274531.1:p.Pro448fs, XP_047273096.1:p.Pro420fs

Select item 148373796010.

rs1483737960 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:161049518 (GRCh38)
1:161019308 (GRCh37)
Canonical SPDI:: NC_000001.11:161049517:A:C,NC_000001.11:161049517:A:G
Gene:: ARHGAP30 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
C=0.002729/5 (Korea1K)
HGVS:: NC_000001.11:g.161049518A>C, NC_000001.11:g.161049518A>G, NC_000001.10:g.161019308A>C, NC_000001.10:g.161019308A>G, NG_011612.1:g.1450T>G, NG_011612.1:g.1450T>C, XM_005245073.4:c.1148T>G, XM_005245073.4:c.1148T>C, XM_005245073.3:c.1148T>G, XM_005245073.3:c.1148T>C, XM_005245073.2:c.1148T>G, XM_005245073.2:c.1148T>C, XM_005245073.1:c.1148T>G, XM_005245073.1:c.1148T>C, XM_011509391.3:c.1148T>G, XM_011509391.3:c.1148T>C, XM_011509391.2:c.1148T>G, XM_011509391.2:c.1148T>C, XM_011509391.1:c.1148T>G, XM_011509391.1:c.1148T>C, NM_181720.3:c.1592T>G, NM_181720.3:c.1592T>C, NM_181720.2:c.1592T>G, NM_181720.2:c.1592T>C, NM_001025598.2:c.1592T>G, NM_001025598.2:c.1592T>C, NM_001025598.1:c.1592T>G, NM_001025598.1:c.1592T>C, NM_001287600.2:c.1148T>G, NM_001287600.2:c.1148T>C, NM_001287600.1:c.1148T>G, NM_001287600.1:c.1148T>C, NM_001287602.2:c.1061T>G, NM_001287602.2:c.1061T>C, NM_001287602.1:c.1061T>G, NM_001287602.1:c.1061T>C, XP_005245130.1:p.Val383Gly, XP_005245130.1:p.Val383Ala, XP_011507693.1:p.Val383Gly, XP_011507693.1:p.Val383Ala, NP_859071.2:p.Val531Gly, NP_859071.2:p.Val531Ala, NP_001020769.1:p.Val531Gly, NP_001020769.1:p.Val531Ala, NP_001274529.1:p.Val383Gly, NP_001274529.1:p.Val383Ala, NP_001274531.1:p.Val354Gly, NP_001274531.1:p.Val354Ala

Select item 148267841411.

rs1482678414 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:161052486 (GRCh38)
1:161022276 (GRCh37)
Canonical SPDI:: NC_000001.11:161052485:A:G
Gene:: ARHGAP30 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000169/2 (ALFA)
G=0.000016/4 (GnomAD_exomes)
G=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.161052486A>G, NC_000001.10:g.161022276A>G, XM_005245073.4:c.450T>C, XM_005245073.3:c.450T>C, XM_005245073.2:c.450T>C, XM_005245073.1:c.450T>C, XM_011509391.3:c.450T>C, XM_011509391.2:c.450T>C, XM_011509391.1:c.450T>C, XM_005245070.3:c.894T>C, XM_005245070.2:c.894T>C, XM_005245070.1:c.894T>C, NM_181720.3:c.894T>C, NM_181720.2:c.894T>C, NM_001025598.2:c.894T>C, NM_001025598.1:c.894T>C, NM_001287600.2:c.450T>C, NM_001287600.1:c.450T>C, NM_001287602.2:c.363T>C, NM_001287602.1:c.363T>C, XM_047417140.1:c.450T>C

Select item 148252814712.

rs1482528147 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:161048344 (GRCh38)
1:161018134 (GRCh37)
Canonical SPDI:: NC_000001.11:161048343:G:A
Gene:: ARHGAP30 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.161048344G>A, NC_000001.10:g.161018134G>A, NG_011612.1:g.2624C>T, XM_005245073.4:c.2233C>T, XM_005245073.3:c.2233C>T, XM_005245073.2:c.2233C>T, XM_005245073.1:c.2233C>T, XM_011509391.3:c.2233C>T, XM_011509391.2:c.2233C>T, XM_011509391.1:c.2233C>T, XM_005245070.3:c.2506C>T, XM_005245070.2:c.2506C>T, XM_005245070.1:c.2506C>T, NM_181720.3:c.2044C>T, NM_181720.2:c.2044C>T, NM_001025598.2:c.2677C>T, NM_001025598.1:c.2677C>T, NM_001287600.2:c.2233C>T, NM_001287600.1:c.2233C>T, NM_001287602.2:c.2146C>T, NM_001287602.1:c.2146C>T, XM_047417140.1:c.2062C>T, XP_005245130.1:p.Pro745Ser, XP_011507693.1:p.Pro745Ser, XP_005245127.1:p.Pro836Ser, NP_859071.2:p.Pro682Ser, NP_001020769.1:p.Pro893Ser, NP_001274529.1:p.Pro745Ser, NP_001274531.1:p.Pro716Ser, XP_047273096.1:p.Pro688Ser

Select item 148175688713.

rs1481756887 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:161051684 (GRCh38)
1:161021474 (GRCh37)
Canonical SPDI:: NC_000001.11:161051683:G:A,NC_000001.11:161051683:G:T
Gene:: ARHGAP30 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.161051684G>A, NC_000001.11:g.161051684G>T, NC_000001.10:g.161021474G>A, NC_000001.10:g.161021474G>T, XM_005245073.4:c.606C>T, XM_005245073.4:c.606C>A, XM_005245073.3:c.606C>T, XM_005245073.3:c.606C>A, XM_005245073.2:c.606C>T, XM_005245073.2:c.606C>A, XM_005245073.1:c.606C>T, XM_005245073.1:c.606C>A, XM_011509391.3:c.606C>T, XM_011509391.3:c.606C>A, XM_011509391.2:c.606C>T, XM_011509391.2:c.606C>A, XM_011509391.1:c.606C>T, XM_011509391.1:c.606C>A, XM_005245070.3:c.1050C>T, XM_005245070.3:c.1050C>A, XM_005245070.2:c.1050C>T, XM_005245070.2:c.1050C>A, XM_005245070.1:c.1050C>T, XM_005245070.1:c.1050C>A, NM_181720.3:c.1050C>T, NM_181720.3:c.1050C>A, NM_181720.2:c.1050C>T, NM_181720.2:c.1050C>A, NM_001025598.2:c.1050C>T, NM_001025598.2:c.1050C>A, NM_001025598.1:c.1050C>T, NM_001025598.1:c.1050C>A, NM_001287600.2:c.606C>T, NM_001287600.2:c.606C>A, NM_001287600.1:c.606C>T, NM_001287600.1:c.606C>A, NM_001287602.2:c.519C>T, NM_001287602.2:c.519C>A, NM_001287602.1:c.519C>T, NM_001287602.1:c.519C>A, XM_047417140.1:c.606C>T, XM_047417140.1:c.606C>A

Select item 148108477514.

rs1481084775 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:161049121 (GRCh38)
1:161018911 (GRCh37)
Canonical SPDI:: NC_000001.11:161049120:C:T
Gene:: ARHGAP30 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.161049121C>T, NC_000001.10:g.161018911C>T, NG_011612.1:g.1847G>A, XM_005245073.4:c.1456G>A, XM_005245073.3:c.1456G>A, XM_005245073.2:c.1456G>A, XM_005245073.1:c.1456G>A, XM_011509391.3:c.1456G>A, XM_011509391.2:c.1456G>A, XM_011509391.1:c.1456G>A, XM_005245070.3:c.1729G>A, XM_005245070.2:c.1729G>A, XM_005245070.1:c.1729G>A, NM_181720.3:c.1900G>A, NM_181720.2:c.1900G>A, NM_001025598.2:c.1900G>A, NM_001025598.1:c.1900G>A, NM_001287600.2:c.1456G>A, NM_001287600.1:c.1456G>A, NM_001287602.2:c.1369G>A, NM_001287602.1:c.1369G>A, XM_047417140.1:c.1285G>A, XP_005245130.1:p.Glu486Lys, XP_011507693.1:p.Glu486Lys, XP_005245127.1:p.Glu577Lys, NP_859071.2:p.Glu634Lys, NP_001020769.1:p.Glu634Lys, NP_001274529.1:p.Glu486Lys, NP_001274531.1:p.Glu457Lys, XP_047273096.1:p.Glu429Lys

Select item 147936692915.

rs1479366929 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:161049091 (GRCh38)
1:161018881 (GRCh37)
Canonical SPDI:: NC_000001.11:161049090:C:G,NC_000001.11:161049090:C:T
Gene:: ARHGAP30 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.161049091C>G, NC_000001.11:g.161049091C>T, NC_000001.10:g.161018881C>G, NC_000001.10:g.161018881C>T, NG_011612.1:g.1877G>C, NG_011612.1:g.1877G>A, XM_005245073.4:c.1486G>C, XM_005245073.4:c.1486G>A, XM_005245073.3:c.1486G>C, XM_005245073.3:c.1486G>A, XM_005245073.2:c.1486G>C, XM_005245073.2:c.1486G>A, XM_005245073.1:c.1486G>C, XM_005245073.1:c.1486G>A, XM_011509391.3:c.1486G>C, XM_011509391.3:c.1486G>A, XM_011509391.2:c.1486G>C, XM_011509391.2:c.1486G>A, XM_011509391.1:c.1486G>C, XM_011509391.1:c.1486G>A, XM_005245070.3:c.1759G>C, XM_005245070.3:c.1759G>A, XM_005245070.2:c.1759G>C, XM_005245070.2:c.1759G>A, XM_005245070.1:c.1759G>C, XM_005245070.1:c.1759G>A, NM_181720.3:c.1930G>C, NM_181720.3:c.1930G>A, NM_181720.2:c.1930G>C, NM_181720.2:c.1930G>A, NM_001025598.2:c.1930G>C, NM_001025598.2:c.1930G>A, NM_001025598.1:c.1930G>C, NM_001025598.1:c.1930G>A, NM_001287600.2:c.1486G>C, NM_001287600.2:c.1486G>A, NM_001287600.1:c.1486G>C, NM_001287600.1:c.1486G>A, NM_001287602.2:c.1399G>C, NM_001287602.2:c.1399G>A, NM_001287602.1:c.1399G>C, NM_001287602.1:c.1399G>A, XM_047417140.1:c.1315G>C, XM_047417140.1:c.1315G>A, XP_005245130.1:p.Ala496Pro, XP_005245130.1:p.Ala496Thr, XP_011507693.1:p.Ala496Pro, XP_011507693.1:p.Ala496Thr, XP_005245127.1:p.Ala587Pro, XP_005245127.1:p.Ala587Thr, NP_859071.2:p.Ala644Pro, NP_859071.2:p.Ala644Thr, NP_001020769.1:p.Ala644Pro, NP_001020769.1:p.Ala644Thr, NP_001274529.1:p.Ala496Pro, NP_001274529.1:p.Ala496Thr, NP_001274531.1:p.Ala467Pro, NP_001274531.1:p.Ala467Thr, XP_047273096.1:p.Ala439Pro, XP_047273096.1:p.Ala439Thr

Select item 147931050116.

rs1479310501 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:161051338 (GRCh38)
1:161021128 (GRCh37)
Canonical SPDI:: NC_000001.11:161051337:G:A
Gene:: ARHGAP30 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.161051338G>A, NC_000001.10:g.161021128G>A, XM_005245073.4:c.952C>T, XM_005245073.3:c.952C>T, XM_005245073.2:c.952C>T, XM_005245073.1:c.952C>T, XM_011509391.3:c.952C>T, XM_011509391.2:c.952C>T, XM_011509391.1:c.952C>T, XM_005245070.3:c.1396C>T, XM_005245070.2:c.1396C>T, XM_005245070.1:c.1396C>T, NM_181720.3:c.1396C>T, NM_181720.2:c.1396C>T, NM_001025598.2:c.1396C>T, NM_001025598.1:c.1396C>T, NM_001287600.2:c.952C>T, NM_001287600.1:c.952C>T, NM_001287602.2:c.865C>T, NM_001287602.1:c.865C>T, XM_047417140.1:c.952C>T, XP_005245130.1:p.Pro318Ser, XP_011507693.1:p.Pro318Ser, XP_005245127.1:p.Pro466Ser, NP_859071.2:p.Pro466Ser, NP_001020769.1:p.Pro466Ser, NP_001274529.1:p.Pro318Ser, NP_001274531.1:p.Pro289Ser, XP_047273096.1:p.Pro318Ser

Select item 147847304517.

rs1478473045 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:161053310 (GRCh38)
1:161023100 (GRCh37)
Canonical SPDI:: NC_000001.11:161053309:C:T
Gene:: ARHGAP30 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.161053310C>T, NC_000001.10:g.161023100C>T, XM_005245073.4:c.168G>A, XM_005245073.3:c.168G>A, XM_005245073.2:c.168G>A, XM_005245073.1:c.168G>A, XM_011509391.3:c.168G>A, XM_011509391.2:c.168G>A, XM_011509391.1:c.168G>A, XM_005245070.3:c.612G>A, XM_005245070.2:c.612G>A, XM_005245070.1:c.612G>A, NM_181720.3:c.612G>A, NM_181720.2:c.612G>A, NM_001025598.2:c.612G>A, NM_001025598.1:c.612G>A, NM_001287600.2:c.168G>A, NM_001287600.1:c.168G>A, NM_001287602.2:c.81G>A, NM_001287602.1:c.81G>A, XM_047417140.1:c.168G>A

Select item 147805161218.

rs1478051612 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:161048146 (GRCh38)
1:161017936 (GRCh37)
Canonical SPDI:: NC_000001.11:161048145:C:T
Gene:: ARHGAP30 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.161048146C>T, NC_000001.10:g.161017936C>T, NG_011612.1:g.2822G>A, XM_005245073.4:c.2431G>A, XM_005245073.3:c.2431G>A, XM_005245073.2:c.2431G>A, XM_005245073.1:c.2431G>A, XM_011509391.3:c.2431G>A, XM_011509391.2:c.2431G>A, XM_011509391.1:c.2431G>A, XM_005245070.3:c.2704G>A, XM_005245070.2:c.2704G>A, XM_005245070.1:c.2704G>A, NM_181720.3:c.2242G>A, NM_181720.2:c.2242G>A, NM_001025598.2:c.2875G>A, NM_001025598.1:c.2875G>A, NM_001287600.2:c.2431G>A, NM_001287600.1:c.2431G>A, NM_001287602.2:c.2344G>A, NM_001287602.1:c.2344G>A, XM_047417140.1:c.2260G>A, XP_005245130.1:p.Val811Met, XP_011507693.1:p.Val811Met, XP_005245127.1:p.Val902Met, NP_859071.2:p.Val748Met, NP_001020769.1:p.Val959Met, NP_001274529.1:p.Val811Met, NP_001274531.1:p.Val782Met, XP_047273096.1:p.Val754Met

Select item 147505998319.

rs1475059983 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:161056401 (GRCh38)
1:161026191 (GRCh37)
Canonical SPDI:: NC_000001.11:161056400:T:C
Gene:: ARHGAP30 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.161056401T>C, NC_000001.10:g.161026191T>C, XM_011509391.3:c.-113A>G, XM_011509391.2:c.-113A>G, XM_011509391.1:c.-113A>G, XM_005245070.3:c.332A>G, XM_005245070.2:c.332A>G, XM_005245070.1:c.332A>G, NM_181720.3:c.332A>G, NM_181720.2:c.332A>G, NM_001025598.2:c.332A>G, NM_001025598.1:c.332A>G, XM_047417140.1:c.-113A>G, XP_005245127.1:p.Tyr111Cys, NP_859071.2:p.Tyr111Cys, NP_001020769.1:p.Tyr111Cys

Select item 147455508120.

rs1474555081 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:161052753 (GRCh38)
1:161022543 (GRCh37)
Canonical SPDI:: NC_000001.11:161052752:C:G,NC_000001.11:161052752:C:T
Gene:: ARHGAP30 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.161052753C>G, NC_000001.11:g.161052753C>T, NC_000001.10:g.161022543C>G, NC_000001.10:g.161022543C>T, XM_005245073.4:c.265G>C, XM_005245073.4:c.265G>A, XM_005245073.3:c.265G>C, XM_005245073.3:c.265G>A, XM_005245073.2:c.265G>C, XM_005245073.2:c.265G>A, XM_005245073.1:c.265G>C, XM_005245073.1:c.265G>A, XM_011509391.3:c.265G>C, XM_011509391.3:c.265G>A, XM_011509391.2:c.265G>C, XM_011509391.2:c.265G>A, XM_011509391.1:c.265G>C, XM_011509391.1:c.265G>A, XM_005245070.3:c.709G>C, XM_005245070.3:c.709G>A, XM_005245070.2:c.709G>C, XM_005245070.2:c.709G>A, XM_005245070.1:c.709G>C, XM_005245070.1:c.709G>A, NM_181720.3:c.709G>C, NM_181720.3:c.709G>A, NM_181720.2:c.709G>C, NM_181720.2:c.709G>A, NM_001025598.2:c.709G>C, NM_001025598.2:c.709G>A, NM_001025598.1:c.709G>C, NM_001025598.1:c.709G>A, NM_001287600.2:c.265G>C, NM_001287600.2:c.265G>A, NM_001287600.1:c.265G>C, NM_001287600.1:c.265G>A, NM_001287602.2:c.178G>C, NM_001287602.2:c.178G>A, NM_001287602.1:c.178G>C, NM_001287602.1:c.178G>A, XM_047417140.1:c.265G>C, XM_047417140.1:c.265G>A, XP_005245130.1:p.Ala89Pro, XP_005245130.1:p.Ala89Thr, XP_011507693.1:p.Ala89Pro, XP_011507693.1:p.Ala89Thr, XP_005245127.1:p.Ala237Pro, XP_005245127.1:p.Ala237Thr, NP_859071.2:p.Ala237Pro, NP_859071.2:p.Ala237Thr, NP_001020769.1:p.Ala237Pro, NP_001020769.1:p.Ala237Thr, NP_001274529.1:p.Ala89Pro, NP_001274529.1:p.Ala89Thr, NP_001274531.1:p.Ala60Pro, NP_001274531.1:p.Ala60Thr, XP_047273096.1:p.Ala89Pro, XP_047273096.1:p.Ala89Thr

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