Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15445583C>T , CM000663.2:g.15445583C>T | GRCh38 |
| NC_000001.10:g.15772078C>T , CM000663.1:g.15772078C>T | GRCh37 |
| NC_000001.9:g.15644665C>T | NCBI36 |
| NG_009253.1:g.12141C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_007272.3:c.640-14C>T MANE Select | NP_009203.2:n.640-14C>T |
| ENST00000375949.5:c.640-14C>T MANE Select | ENSP00000365116.4:n.640-14C>T |
| NM_007272.2:c.640-14C>T | NP_009203.2:n.640-14C>T |
| ENST00000375943.6:c.*94-14C>T | ENSP00000365110.2:n.*94-14C>T |
| ENST00000375949.4:c.640-14C>T | ENSP00000365116.4:n.640-14C>T |
| ENST00000483406.1:n.404-14C>T | |
| XM_011540550.1:c.494-14C>T | XP_011538852.1:n.494-14C>T |