Linked Data
ClinVar Variation Id:
1397253
ClinVar RCV Id:
RCV001891662
dbSNP Id:
rs1046254851
gnomAD v2:
1-17313371-C-G
gnomAD v3:
1-16986876-C-G
gnomAD v4:
1-16986876-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16986876C>G , CM000663.2:g.16986876C>G | GRCh38 |
| NC_000001.10:g.17313371C>G , CM000663.1:g.17313371C>G | GRCh37 |
| NC_000001.9:g.17185958C>G | NCBI36 |
| NG_009054.1:g.30053G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326735.13:c.3164G>C MANE Select | ENSP00000327214.8:p.Ser1055Thr | |
| ENST00000326735.12:c.3164G>C | ENSP00000327214.8:p.Ser1055Thr | |
| ENST00000341676.9:c.3032G>C | ENSP00000341115.5:p.Ser1011Thr | |
| ENST00000452699.5:c.3149G>C | ENSP00000413307.1:p.Ser1050Thr | |
| ENST00000466561.1:n.1038G>C | ||
| ENST00000502418.1:c.752G>C | ENSP00000423065.1:p.Ser251Thr | |
| NM_001141973.2:c.3149G>C | NP_001135445.1:p.Ser1050Thr | |
| NM_001141974.2:c.3032G>C | NP_001135446.1:p.Ser1011Thr | |
| NM_022089.3:c.3164G>C | NP_071372.1:p.Ser1055Thr | |
| XM_005245809.1:c.3164G>C | XP_005245866.1:p.Ser1055Thr | |
| XM_005245810.1:c.3161G>C | XP_005245867.1:p.Ser1054Thr | |
| XM_005245811.1:c.3149G>C | XP_005245868.1:p.Ser1050Thr | |
| XM_005245812.1:c.3137G>C | XP_005245869.1:p.Ser1046Thr | |
| XM_005245813.1:c.3104G>C | XP_005245870.1:p.Ser1035Thr | |
| XM_005245815.1:c.3047G>C | XP_005245872.1:p.Ser1016Thr | |
| XM_006710512.1:c.3146G>C | XP_006710575.1:p.Ser1049Thr | |
| XM_006710513.1:c.3122G>C | XP_006710576.1:p.Ser1041Thr | |
| XM_011541128.1:c.3149G>C | XP_011539430.1:p.Ser1050Thr | |
| XM_011541129.1:c.2957G>C | XP_011539431.1:p.Ser986Thr | |
| XM_017000844.1:c.3149G>C | XP_016856333.1:p.Ser1050Thr | |
| XM_017000845.1:c.3146G>C | XP_016856334.1:p.Ser1049Thr | |
| XM_017000846.1:c.3122G>C | XP_016856335.1:p.Ser1041Thr | |
| XM_017000847.1:c.3119G>C | XP_016856336.1:p.Ser1040Thr | |
| XM_017000848.1:c.3047G>C | XP_016856337.1:p.Ser1016Thr | |
| XM_017000849.1:c.3032G>C | XP_016856338.1:p.Ser1011Thr | |
| XM_017000850.1:c.2957G>C | XP_016856339.1:p.Ser986Thr | |
| NM_022089.4:c.3164G>C MANE Select | NP_071372.1:p.Ser1055Thr | |
| NM_001141973.3:c.3149G>C | NP_001135445.1:p.Ser1050Thr | |
| NM_001141974.3:c.3032G>C | NP_001135446.1:p.Ser1011Thr |