Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.20759962A>G , CM000686.2:g.20759962A>G | GRCh38 |
| NC_000024.9:g.22921848A>G , CM000686.1:g.22921848A>G | GRCh37 |
| NC_000024.8:g.21331236A>G | NCBI36 |
| NG_032924.1:g.8895A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000629237.2:c.176A>G MANE Select | ENSP00000486252.1:p.Asp59Gly | |
| ENST00000629237.1:c.176A>G | ENSP00000486252.1:p.Asp59Gly | |
| NM_001039567.2:c.176A>G | NP_001034656.1:p.Asp59Gly | |
| XM_011531423.1:c.125A>G | XP_011529725.1:p.Asp42Gly | |
| NM_001039567.3:c.176A>G MANE Select | NP_001034656.1:p.Asp59Gly |