Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.61049562T>A , CM000664.2:g.61049562T>A | GRCh38 |
| NC_000002.11:g.61276697T>A , CM000664.1:g.61276697T>A | GRCh37 |
| NC_000002.10:g.61130201T>A | NCBI36 |
| NG_008665.1:g.36886T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002618.4:c.*792T>A MANE Select | NP_002609.1:n.*792T>A |
| ENST00000295030.6:c.*792T>A MANE Select | ENSP00000295030.4:n.*792T>A |
| NM_002618.3:c.*792T>A | NP_002609.1:n.*792T>A |
| ENST00000295030.5:c.*792T>A | ENSP00000295030.4:n.*792T>A |