Linked Data
dbSNP Id:
rs771882136
ExAC:
2:220284983 C / A
gnomAD v2:
2-220284983-C-A
gnomAD v4:
2-219420261-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219420261C>A , CM000664.2:g.219420261C>A | GRCh38 |
| NC_000002.11:g.220284983C>A , CM000664.1:g.220284983C>A | GRCh37 |
| NC_000002.10:g.219993227C>A | NCBI36 |
| NG_008043.1:g.6885C>A , LRG_380:g.6885C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000477226.6:n.124C>A | ||
| ENST00000683013.1:n.38C>A | ||
| ENST00000373960.4:c.650C>A MANE Select | ENSP00000363071.3:p.Ala217Glu | |
| ENST00000373960.3:c.650C>A | ENSP00000363071.3:p.Ala217Glu | |
| ENST00000477226.5:n.122C>A | ||
| ENST00000492726.1:n.45C>A | ||
| NM_001927.3:c.650C>A , LRG_380t1:c.650C>A | NP_001918.3:p.Ala217Glu | |
| NM_001927.4:c.650C>A MANE Select | NP_001918.3:p.Ala217Glu | |
| NM_001382708.1:c.647C>A | NP_001369637.1:p.Ala216Glu | |
| NM_001382709.1:c.650C>A | NP_001369638.1:p.Ala217Glu | |
| NM_001382710.1:c.650C>A | NP_001369639.1:p.Ala217Glu | |
| NM_001382711.1:c.650C>A | NP_001369640.1:p.Ala217Glu | |
| NM_001382712.1:c.650C>A | NP_001369641.1:p.Ala217Glu | |
| NM_001382713.1:c.496-264C>A | NP_001369642.1:n.496-264C>A |