Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15445778C>T , CM000663.2:g.15445778C>T | GRCh38 |
| NC_000001.10:g.15772273C>T , CM000663.1:g.15772273C>T | GRCh37 |
| NC_000001.9:g.15644860C>T | NCBI36 |
| NG_009253.1:g.12336C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375949.5:c.792+29C>T MANE Select | ENSP00000365116.4:n.792+29C>T | |
| ENST00000375943.6:c.*246+29C>T | ENSP00000365110.2:n.*246+29C>T | |
| ENST00000375949.4:c.792+29C>T | ENSP00000365116.4:n.792+29C>T | |
| ENST00000483406.1:n.556+29C>T | ||
| NM_007272.2:c.792+29C>T | NP_009203.2:n.792+29C>T | |
| XM_011540550.1:c.646+29C>T | XP_011538852.1:n.646+29C>T | |
| NM_007272.3:c.792+29C>T MANE Select | NP_009203.2:n.792+29C>T |