Linked Data
dbSNP Id:
rs761658130
ExAC:
6:33037610 C / A
gnomAD v2:
6-33037610-C-A
gnomAD v3:
6-33069833-C-A
gnomAD v4:
6-33069833-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33069833C>A , CM000668.2:g.33069833C>A | GRCh38 |
| NC_000006.11:g.33037610C>A , CM000668.1:g.33037610C>A | GRCh37 |
| NC_000006.10:g.33145588C>A | NCBI36 |
| NG_033241.1:g.15946G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000692443.1:c.154G>T MANE Select | ENSP00000509163.1:p.Glu52Ter | |
| ENST00000419277.5:c.154G>T | ENSP00000393566.1:p.Glu52Ter | |
| ENST00000453337.1:c.154G>T | ENSP00000390929.1:p.Glu52Ter | |
| ENST00000463066.1:n.249G>T | ||
| ENST00000476642.5:n.130G>T | ||
| ENST00000479107.1:n.199G>T | ||
| NM_001242524.1:c.154G>T | NP_001229453.1:p.Glu52Ter | |
| NM_001242525.1:c.154G>T | NP_001229454.1:p.Glu52Ter | |
| NM_033554.3:c.154G>T | NP_291032.2:p.Glu52Ter | |
| XM_011514559.1:c.154G>T | XP_011512861.1:p.Glu52Ter | |
| NM_001242524.2:c.154G>T | NP_001229453.1:p.Glu52Ter | |
| NM_001242525.2:c.154G>T | NP_001229454.1:p.Glu52Ter |