Linked Data
dbSNP Id:
rs773640231
ExAC:
4:100341814 G / A
gnomAD v2:
4-100341814-G-A
gnomAD v3:
4-99420657-G-A
gnomAD v4:
4-99420657-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99420657G>A , CM000666.2:g.99420657G>A | GRCh38 |
| NC_000004.11:g.100341814G>A , CM000666.1:g.100341814G>A | GRCh37 |
| NC_000004.10:g.100560837G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000437033.7:c.701C>T MANE Select | ENSP00000414254.2:p.Ala234Val | |
| ENST00000209665.8:c.737C>T | ENSP00000209665.4:p.Ala246Val | |
| ENST00000437033.6:c.701C>T | ENSP00000414254.2:p.Ala234Val | |
| ENST00000476959.5:c.761C>T | ENSP00000420269.1:p.Ala254Val | |
| ENST00000482593.5:c.530C>T | ENSP00000420613.1:p.Ala177Val | |
| NM_000673.4:c.737C>T | NP_000664.2:p.Ala246Val | |
| NM_001166504.1:c.761C>T | NP_001159976.1:p.Ala254Val | |
| NM_000673.7:c.701C>T MANE Select | NP_000664.3:p.Ala234Val | |
| NM_001166504.2:c.761C>T | NP_001159976.1:p.Ala254Val |