Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38421021A>G , CM000685.2:g.38421021A>G | GRCh38 |
| NC_000023.10:g.38280274A>G , CM000685.1:g.38280274A>G | GRCh37 |
| NC_000023.9:g.38165218A>G | NCBI36 |
| NG_008471.1:g.73539A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000531.6:c.1006-2A>G MANE Select | NP_000522.3:n.1006-2A>G |
| ENST00000039007.5:c.1006-2A>G MANE Select | ENSP00000039007.4:n.1006-2A>G |
| NM_000531.5:c.1006-2A>G | NP_000522.3:n.1006-2A>G |
| ENST00000039007.4:c.1006-2A>G | ENSP00000039007.4:n.1006-2A>G |
| ENST00000465127.1:c.172-245100A>G | ENSP00000417050.1:n.172-245100A>G |
| ENST00000643344.1:c.*756-2A>G | ENSP00000496606.1:n.*756-2A>G |