Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134440465T>A , CM000671.2:g.134440465T>A | GRCh38 |
| NC_000009.11:g.137332311T>A , CM000671.1:g.137332311T>A | GRCh37 |
| NC_000009.10:g.136472132T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002957.6:c.*3851T>A MANE Select | NP_002948.1:n.*3851T>A |
| ENST00000481739.2:c.*3851T>A MANE Select | ENSP00000419692.1:n.*3851T>A |
| NM_001291920.1:c.*3851T>A | NP_001278849.1:n.*3851T>A |
| NM_001291920.2:c.*3851T>A | NP_001278849.1:n.*3851T>A |
| NM_001291921.1:c.*3851T>A | NP_001278850.1:n.*3851T>A |
| NM_001291921.2:c.*3851T>A | NP_001278850.1:n.*3851T>A |
| NM_002957.5:c.*3851T>A | NP_002948.1:n.*3851T>A |
| ENST00000356384.4:n.5650T>A |