Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.72909868G>T , CM000671.2:g.72909868G>T | GRCh38 |
| NC_000009.11:g.75524784G>T , CM000671.1:g.75524784G>T | GRCh37 |
| NC_000009.10:g.74714604G>T | NCBI36 |
| NG_012249.1:g.48186C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000689.5:c.1201-109C>A MANE Select | NP_000680.2:n.1201-109C>A |
| ENST00000297785.8:c.1201-109C>A MANE Select | ENSP00000297785.3:n.1201-109C>A |
| NM_000689.4:c.1201-109C>A | NP_000680.2:n.1201-109C>A |
| ENST00000297785.7:c.1201-109C>A | ENSP00000297785.3:n.1201-109C>A |