Linked Data
dbSNP Id:
rs768226887
ExAC:
6:33037663 G / A
gnomAD v2:
6-33037663-G-A
gnomAD v3:
6-33069886-G-A
gnomAD v4:
6-33069886-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33069886G>A , CM000668.2:g.33069886G>A | GRCh38 |
| NC_000006.11:g.33037663G>A , CM000668.1:g.33037663G>A | GRCh37 |
| NC_000006.10:g.33145641G>A | NCBI36 |
| NG_033241.1:g.15893C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000692443.1:c.101C>T MANE Select | ENSP00000509163.1:p.Ala34Val | |
| ENST00000419277.5:c.101C>T | ENSP00000393566.1:p.Ala34Val | |
| ENST00000453337.1:c.101C>T | ENSP00000390929.1:p.Ala34Val | |
| ENST00000463066.1:n.196C>T | ||
| ENST00000476642.5:n.77C>T | ||
| ENST00000479107.1:n.146C>T | ||
| NM_001242524.1:c.101C>T | NP_001229453.1:p.Ala34Val | |
| NM_001242525.1:c.101C>T | NP_001229454.1:p.Ala34Val | |
| NM_033554.3:c.101C>T | NP_291032.2:p.Ala34Val | |
| XM_011514559.1:c.101C>T | XP_011512861.1:p.Ala34Val | |
| NM_001242524.2:c.101C>T | NP_001229453.1:p.Ala34Val | |
| NM_001242525.2:c.101C>T | NP_001229454.1:p.Ala34Val |