Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.83666280A>C , CM000671.2:g.83666280A>C | GRCh38 |
| NC_000009.11:g.86281195A>C , CM000671.1:g.86281195A>C | GRCh37 |
| NC_000009.10:g.85471015A>C | NCBI36 |
| NG_011519.1:g.46974T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_013438.5:c.1332+70T>G MANE Select | NP_038466.2:n.1332+70T>G |
| ENST00000376395.9:c.1332+70T>G MANE Select | ENSP00000365576.4:n.1332+70T>G |
| NM_013438.4:c.1332+70T>G | NP_038466.2:n.1332+70T>G |
| NM_053067.2:c.1249-1135T>G | NP_444295.1:n.1249-1135T>G |
| NM_053067.3:c.1249-1135T>G | NP_444295.1:n.1249-1135T>G |
| ENST00000257468.11:c.1249-1135T>G | ENSP00000257468.7:n.1249-1135T>G |
| ENST00000376395.8:c.1332+70T>G | ENSP00000365576.4:n.1332+70T>G |
| ENST00000526134.1:c.152+70T>G | |
| ENST00000533705.5:n.3801+70T>G |