Linked Data
ClinVar Variation Id:
128474
dbSNP Id:
rs151181674
ExAC:
1:17312829 C / T
gnomAD v2:
1-17312829-C-T
gnomAD v3:
1-16986334-C-T
gnomAD v4:
1-16986334-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16986334C>T , CM000663.2:g.16986334C>T | GRCh38 |
| NC_000001.10:g.17312829C>T , CM000663.1:g.17312829C>T | GRCh37 |
| NC_000001.9:g.17185416C>T | NCBI36 |
| NG_009054.1:g.30595G>A | |
| NG_029688.1:g.253G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000326735.13:c.3430G>A MANE Select | ENSP00000327214.8:p.Ala1144Thr | |
| ENST00000326735.12:c.3430G>A | ENSP00000327214.8:p.Ala1144Thr | |
| ENST00000341676.9:c.3128G>A | ENSP00000341115.5:p.Arg1043His | |
| ENST00000452699.5:c.3415G>A | ENSP00000413307.1:p.Ala1139Thr | |
| ENST00000466561.1:n.1476G>A | ||
| ENST00000502418.1:c.848G>A | ENSP00000423065.1:p.Arg283His | |
| NM_001141973.2:c.3415G>A | NP_001135445.1:p.Ala1139Thr | |
| NM_001141974.2:c.3128G>A | NP_001135446.1:p.Arg1043His | |
| NM_022089.3:c.3430G>A | NP_071372.1:p.Ala1144Thr | |
| XM_005245809.1:c.3260G>A | XP_005245866.1:p.Arg1087His | |
| XM_005245810.1:c.3257G>A | XP_005245867.1:p.Arg1086His | |
| XM_005245811.1:c.3245G>A | XP_005245868.1:p.Arg1082His | |
| XM_005245812.1:c.3233G>A | XP_005245869.1:p.Arg1078His | |
| XM_005245813.1:c.3200G>A | XP_005245870.1:p.Arg1067His | |
| XM_005245815.1:c.3143G>A | XP_005245872.1:p.Arg1048His | |
| XM_006710512.1:c.3242G>A | XP_006710575.1:p.Arg1081His | |
| XM_006710513.1:c.3218G>A | XP_006710576.1:p.Arg1073His | |
| XM_011541128.1:c.3245G>A | XP_011539430.1:p.Arg1082His | |
| XM_011541129.1:c.3053G>A | XP_011539431.1:p.Arg1018His | |
| XM_017000844.1:c.3415G>A | XP_016856333.1:p.Ala1139Thr | |
| XM_017000845.1:c.3412G>A | XP_016856334.1:p.Ala1138Thr | |
| XM_017000846.1:c.3388G>A | XP_016856335.1:p.Ala1130Thr | |
| XM_017000847.1:c.3385G>A | XP_016856336.1:p.Ala1129Thr | |
| XM_017000848.1:c.3313G>A | XP_016856337.1:p.Ala1105Thr | |
| XM_017000849.1:c.3298G>A | XP_016856338.1:p.Ala1100Thr | |
| XM_017000850.1:c.3223G>A | XP_016856339.1:p.Ala1075Thr | |
| NM_022089.4:c.3430G>A MANE Select | NP_071372.1:p.Ala1144Thr | |
| NM_001141973.3:c.3415G>A | NP_001135445.1:p.Ala1139Thr | |
| NM_001141974.3:c.3128G>A | NP_001135446.1:p.Arg1043His |