Linked Data
dbSNP Id:
rs764356651
ExAC:
17:1554004 G / A
gnomAD v2:
17-1554004-G-A
gnomAD v3:
17-1650710-G-A
gnomAD v4:
17-1650710-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1650710G>A , CM000679.2:g.1650710G>A | GRCh38 |
| NC_000017.10:g.1554004G>A , CM000679.1:g.1554004G>A | GRCh37 |
| NC_000017.9:g.1500754G>A | NCBI36 |
| NG_009118.1:g.39173C>T | |
| NG_033061.1:g.4389C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000573725.2:c.*92C>T | ENSP00000460849.2:n.*92C>T | |
| ENST00000703537.1:c.2848C>T | ||
| ENST00000703538.1:c.*6823C>T | ENSP00000515361.1:n.*6823C>T | |
| ENST00000703539.1:n.3414C>T | ||
| ENST00000703540.1:c.*92C>T | ENSP00000515362.1:n.*92C>T | |
| ENST00000304992.11:c.*92C>T MANE Select | ENSP00000304350.6:n.*92C>T | |
| ENST00000304992.10:c.*92C>T | ENSP00000304350.6:n.*92C>T | |
| ENST00000571958.1:c.299C>T | ||
| ENST00000572621.5:c.*92C>T | ENSP00000460348.1:n.*92C>T | |
| NM_006445.3:c.*92C>T | NP_006436.3:n.*92C>T | |
| XM_024450537.1:c.*92C>T | XP_024306305.1:n.*92C>T | |
| NM_006445.4:c.*92C>T MANE Select | NP_006436.3:n.*92C>T |