Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232525492G>A , CM000664.2:g.232525492G>A | GRCh38 |
| NC_000002.11:g.233390202G>A , CM000664.1:g.233390202G>A | GRCh37 |
| NC_000002.10:g.233098446G>A | NCBI36 |
| NG_008028.1:g.4281G>A | |
| NG_031969.1:g.10030G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001195129.2:c.1798G>A MANE Select | NP_001182058.1:p.Ala600Thr |
| ENST00000617714.2:c.1798G>A MANE Select | ENSP00000479745.1:p.Ala600Thr |
| NM_001195129.1:c.1798G>A | NP_001182058.1:p.Ala600Thr |
| NM_001369848.1:c.1801G>A | NP_001356777.1:p.Ala601Thr |
| ENST00000449534.6:c.1801G>A | ENSP00000473410.1:p.Ala601Thr |
| ENST00000617714.1:c.1798G>A | ENSP00000479745.1:p.Ala600Thr |