Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57204135C>T , CM000674.2:g.57204135C>T | GRCh38 |
| NC_000012.11:g.57597918C>T , CM000674.1:g.57597918C>T | GRCh37 |
| NC_000012.10:g.55884185C>T | NCBI36 |
| NG_016444.1:g.80637C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243077.8:c.10952-275C>T MANE Select | ENSP00000243077.3:n.10952-275C>T | |
| ENST00000243077.7:c.10952-275C>T | ENSP00000243077.3:n.10952-275C>T | |
| ENST00000451724.6:n.179-275C>T | ||
| ENST00000556356.1:n.518C>T | ||
| NM_002332.2:c.10952-275C>T | NP_002323.2:n.10952-275C>T | |
| XM_017019303.1:c.11003-275C>T | XP_016874792.1:n.11003-275C>T | |
| NM_002332.3:c.10952-275C>T MANE Select | NP_002323.2:n.10952-275C>T |