Linked Data
dbSNP Id:
rs756984927
ExAC:
2:220290684 C / A
gnomAD v2:
2-220290684-C-A
gnomAD v4:
2-219425962-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219425962C>A , CM000664.2:g.219425962C>A | GRCh38 |
| NC_000002.11:g.220290684C>A , CM000664.1:g.220290684C>A | GRCh37 |
| NC_000002.10:g.219998928C>A | NCBI36 |
| NG_008043.1:g.12586C>A , LRG_380:g.12586C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477226.6:n.859C>A | ||
| ENST00000683013.1:n.773C>A | ||
| ENST00000373960.4:c.1385C>A MANE Select | ENSP00000363071.3:p.Ala462Asp | |
| ENST00000373960.3:c.1385C>A | ENSP00000363071.3:p.Ala462Asp | |
| ENST00000483395.1:n.240C>A | ||
| NM_001927.3:c.1385C>A , LRG_380t1:c.1385C>A | NP_001918.3:p.Ala462Asp | |
| NM_001927.4:c.1385C>A MANE Select | NP_001918.3:p.Ala462Asp | |
| NM_001382708.1:c.1382C>A | NP_001369637.1:p.Ala461Asp | |
| NM_001382709.1:c.953C>A | NP_001369638.1:p.Ala318Asp | |
| NM_001382710.1:c.1316C>A | NP_001369639.1:p.Ala439Asp | |
| NM_001382711.1:c.1364C>A | NP_001369640.1:p.Ala455Asp | |
| NM_001382712.1:c.1371+217C>A | NP_001369641.1:n.1371+217C>A | |
| NM_001382713.1:c.1115C>A | NP_001369642.1:p.Ala372Asp |