Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.93953969C>T , CM000671.2:g.93953969C>T | GRCh38 |
| NC_000009.11:g.96716251C>T , CM000671.1:g.96716251C>T | GRCh37 |
| NC_000009.10:g.95756072C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253968.11:c.224-782G>A MANE Select | ENSP00000253968.5:n.224-782G>A | |
| ENST00000253968.10:c.224-782G>A | ENSP00000253968.5:n.224-782G>A | |
| NM_021570.3:c.224-782G>A | NP_067545.3:n.224-782G>A | |
| NM_021570.4:c.224-782G>A MANE Select | NP_067545.3:n.224-782G>A |