Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55116585C>T , CM000666.2:g.55116585C>T | GRCh38 |
| NC_000004.11:g.55982752C>T , CM000666.1:g.55982752C>T | GRCh37 |
| NC_000004.10:g.55677509C>T | NCBI36 |
| NG_012004.1:g.14011G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002253.4:c.359-1174G>A MANE Select | NP_002244.1:n.359-1174G>A |
| ENST00000263923.5:c.359-1174G>A MANE Select | ENSP00000263923.4:n.359-1174G>A |
| NM_002253.2:c.359-1174G>A | NP_002244.1:n.359-1174G>A |
| NM_002253.3:c.359-1174G>A | NP_002244.1:n.359-1174G>A |
| ENST00000263923.4:c.359-1174G>A | ENSP00000263923.4:n.359-1174G>A |
| ENST00000512566.1:n.359-1174G>A | |
| ENST00000647068.1:n.372-1174G>A |