Linked Data
ClinVar Variation Id:
718758
ClinVar RCV Id:
RCV000891757
dbSNP Id:
rs372075957
ExAC:
17:1554493 T / A
gnomAD v2:
17-1554493-T-A
gnomAD v3:
17-1651199-T-A
gnomAD v4:
17-1651199-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1651199T>A , CM000679.2:g.1651199T>A | GRCh38 |
| NC_000017.10:g.1554493T>A , CM000679.1:g.1554493T>A | GRCh37 |
| NC_000017.9:g.1501243T>A | NCBI36 |
| NG_009118.1:g.38684A>T | |
| NG_033061.1:g.3900A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000573725.2:c.6582A>T | ENSP00000460849.2:p.Ser2194= | |
| ENST00000703537.1:c.2510A>T | ||
| ENST00000703538.1:c.*6485A>T | ENSP00000515361.1:n.*6485A>T | |
| ENST00000703539.1:n.3076A>T | ||
| ENST00000703540.1:c.6615A>T | ENSP00000515362.1:p.Ser2205= | |
| ENST00000703541.1:c.6627A>T | ENSP00000515363.1:p.Ser2209= | |
| ENST00000304992.11:c.6762A>T MANE Select | ENSP00000304350.6:p.Ser2254= | |
| ENST00000304992.10:c.6762A>T | ENSP00000304350.6:p.Ser2254= | |
| ENST00000571958.1:c.71A>T | ||
| ENST00000572621.5:c.6762A>T | ENSP00000460348.1:p.Ser2254= | |
| ENST00000572723.1:n.751A>T | ||
| NM_006445.3:c.6762A>T | NP_006436.3:p.Ser2254= | |
| XM_024450537.1:c.6762A>T | XP_024306305.1:p.Ser2254= | |
| NM_006445.4:c.6762A>T MANE Select | NP_006436.3:p.Ser2254= |