Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.77794717A>C , CM000671.2:g.77794717A>C | GRCh38 |
| NC_000009.11:g.80409633A>C , CM000671.1:g.80409633A>C | GRCh37 |
| NC_000009.10:g.79599453A>C | NCBI36 |
| NG_027904.2:g.241587T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286548.9:c.606-125T>G MANE Select | ENSP00000286548.4:n.606-125T>G | |
| ENST00000286548.8:c.606-125T>G | ENSP00000286548.4:n.606-125T>G | |
| NM_002072.4:c.606-125T>G | NP_002063.2:n.606-125T>G | |
| XM_017014628.2:c.432-125T>G | XP_016870117.1:n.432-125T>G | |
| NM_002072.5:c.606-125T>G MANE Select | NP_002063.2:n.606-125T>G |