Linked Data
dbSNP Id:
rs201069467
gnomAD v2:
20-44640228-A-G
gnomAD v3:
20-46011589-A-G
gnomAD v4:
20-46011589-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46011589A>G , CM000682.2:g.46011589A>G | GRCh38 |
| NC_000020.10:g.44640228A>G , CM000682.1:g.44640228A>G | GRCh37 |
| NC_000020.9:g.44073635A>G | NCBI36 |
| NG_011468.1:g.7682A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372330.3:c.839A>G MANE Select | ENSP00000361405.3:p.Asp280Gly | |
| NM_004994.2:c.839A>G | NP_004985.2:p.Asp280Gly | |
| NM_004994.3:c.839A>G MANE Select | NP_004985.2:p.Asp280Gly |