Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29062325C>T , CM000664.2:g.29062325C>T | GRCh38 |
| NC_000002.11:g.29285191C>T , CM000664.1:g.29285191C>T | GRCh37 |
| NC_000002.10:g.29138695C>T | NCBI36 |
| NG_021427.1:g.16937G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331664.6:c.*2544G>A MANE Select | ENSP00000332809.4:n.*2544G>A | |
| ENST00000331664.5:c.6411G>A | ENSP00000332809.4:n.6411G>A | |
| NM_001029883.2:c.6411G>A | NP_001025054.1:n.6411G>A | |
| XM_011532826.1:c.*382-670G>A | XP_011531128.1:n.*382-670G>A | |
| NM_001029883.3:c.*2544G>A MANE Select | NP_001025054.1:n.*2544G>A |