Linked Data
ClinVar Variation Id:
3027054
ClinVar RCV Id:
RCV003887447
dbSNP Id:
rs573196719
gnomAD v2:
1-17312667-T-C
gnomAD v3:
1-16986172-T-C
gnomAD v4:
1-16986172-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16986172T>C , CM000663.2:g.16986172T>C | GRCh38 |
| NC_000001.10:g.17312667T>C , CM000663.1:g.17312667T>C | GRCh37 |
| NC_000001.9:g.17185254T>C | NCBI36 |
| NG_009054.1:g.30757A>G | |
| NG_029688.1:g.415A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326735.13:c.*49A>G MANE Select | ENSP00000327214.8:n.*49A>G | |
| ENST00000326735.12:c.*49A>G | ENSP00000327214.8:n.*49A>G | |
| ENST00000341676.9:c.3290A>G | ENSP00000341115.5:p.His1097Arg | |
| ENST00000452699.5:c.*49A>G | ENSP00000413307.1:n.*49A>G | |
| ENST00000466561.1:n.1638A>G | ||
| ENST00000502418.1:c.1010A>G | ENSP00000423065.1:p.His337Arg | |
| NM_001141973.2:c.*49A>G | NP_001135445.1:n.*49A>G | |
| NM_001141974.2:c.3290A>G | NP_001135446.1:p.His1097Arg | |
| NM_022089.3:c.*49A>G | NP_071372.1:n.*49A>G | |
| XM_005245809.1:c.3422A>G | XP_005245866.1:p.His1141Arg | |
| XM_005245810.1:c.3419A>G | XP_005245867.1:p.His1140Arg | |
| XM_005245811.1:c.3407A>G | XP_005245868.1:p.His1136Arg | |
| XM_005245812.1:c.3395A>G | XP_005245869.1:p.His1132Arg | |
| XM_005245813.1:c.3362A>G | XP_005245870.1:p.His1121Arg | |
| XM_005245815.1:c.3305A>G | XP_005245872.1:p.His1102Arg | |
| XM_006710512.1:c.3404A>G | XP_006710575.1:p.His1135Arg | |
| XM_006710513.1:c.3380A>G | XP_006710576.1:p.His1127Arg | |
| XM_011541128.1:c.3407A>G | XP_011539430.1:p.His1136Arg | |
| XM_011541129.1:c.3215A>G | XP_011539431.1:p.His1072Arg | |
| XM_017000844.1:c.*49A>G | XP_016856333.1:n.*49A>G | |
| XM_017000845.1:c.*49A>G | XP_016856334.1:n.*49A>G | |
| XM_017000846.1:c.*49A>G | XP_016856335.1:n.*49A>G | |
| XM_017000847.1:c.*49A>G | XP_016856336.1:n.*49A>G | |
| XM_017000848.1:c.*49A>G | XP_016856337.1:n.*49A>G | |
| XM_017000849.1:c.*49A>G | XP_016856338.1:n.*49A>G | |
| XM_017000850.1:c.*49A>G | XP_016856339.1:n.*49A>G | |
| NM_022089.4:c.*49A>G MANE Select | NP_071372.1:n.*49A>G | |
| NM_001141973.3:c.*49A>G | NP_001135445.1:n.*49A>G | |
| NM_001141974.3:c.3290A>G | NP_001135446.1:p.His1097Arg |