Linked Data
dbSNP Id:
rs143235779
ExAC:
4:100341739 C / T
gnomAD v2:
4-100341739-C-T
gnomAD v3:
4-99420582-C-T
gnomAD v4:
4-99420582-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99420582C>T , CM000666.2:g.99420582C>T | GRCh38 |
| NC_000004.11:g.100341739C>T , CM000666.1:g.100341739C>T | GRCh37 |
| NC_000004.10:g.100560762C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000437033.7:c.776G>A MANE Select | ENSP00000414254.2:p.Gly259Asp | |
| ENST00000209665.8:c.812G>A | ENSP00000209665.4:p.Gly271Asp | |
| ENST00000437033.6:c.776G>A | ENSP00000414254.2:p.Gly259Asp | |
| ENST00000476959.5:c.836G>A | ENSP00000420269.1:p.Gly279Asp | |
| ENST00000482593.5:c.605G>A | ENSP00000420613.1:p.Gly202Asp | |
| NM_000673.4:c.812G>A | NP_000664.2:p.Gly271Asp | |
| NM_001166504.1:c.836G>A | NP_001159976.1:p.Gly279Asp | |
| NM_000673.7:c.776G>A MANE Select | NP_000664.3:p.Gly259Asp | |
| NM_001166504.2:c.836G>A | NP_001159976.1:p.Gly279Asp |