Linked Data
dbSNP Id:
rs749351610
ExAC:
6:33037530 C / G
gnomAD v2:
6-33037530-C-G
gnomAD v3:
6-33069753-C-G
gnomAD v4:
6-33069753-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33069753C>G , CM000668.2:g.33069753C>G | GRCh38 |
| NC_000006.11:g.33037530C>G , CM000668.1:g.33037530C>G | GRCh37 |
| NC_000006.10:g.33145508C>G | NCBI36 |
| NG_033241.1:g.16026G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000692443.1:c.234G>C MANE Select | ENSP00000509163.1:p.Glu78Asp | |
| ENST00000419277.5:c.234G>C | ENSP00000393566.1:p.Glu78Asp | |
| ENST00000453337.1:c.234G>C | ENSP00000390929.1:p.Glu78Asp | |
| ENST00000463066.1:n.329G>C | ||
| ENST00000476642.5:n.210G>C | ||
| ENST00000479107.1:n.279G>C | ||
| NM_001242524.1:c.234G>C | NP_001229453.1:p.Glu78Asp | |
| NM_001242525.1:c.234G>C | NP_001229454.1:p.Glu78Asp | |
| NM_033554.3:c.234G>C | NP_291032.2:p.Glu78Asp | |
| XM_011514559.1:c.234G>C | XP_011512861.1:p.Glu78Asp | |
| NM_001242524.2:c.234G>C | NP_001229453.1:p.Glu78Asp | |
| NM_001242525.2:c.234G>C | NP_001229454.1:p.Glu78Asp |