Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.138117753C>T , CM000669.2:g.138117753C>T | GRCh38 |
| NC_000007.13:g.137802499C>T , CM000669.1:g.137802499C>T | GRCh37 |
| NC_000007.12:g.137453039C>T | NCBI36 |
| NG_023342.1:g.46322C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005989.4:c.*1091C>T MANE Select | NP_005980.1:n.*1091C>T |
| ENST00000242375.8:c.*1091C>T MANE Select | ENSP00000242375.3:n.*1091C>T |
| NM_001190906.1:c.*1091C>T | NP_001177835.1:n.*1091C>T |
| NM_001190906.2:c.*1091C>T | NP_001177835.1:n.*1091C>T |
| NM_001190907.1:c.*1116C>T | NP_001177836.1:n.*1116C>T |
| NM_001190907.2:c.*1116C>T | NP_001177836.1:n.*1116C>T |
| NM_005989.3:c.*1091C>T | NP_005980.1:n.*1091C>T |
| ENST00000242375.7:c.*1091C>T | ENSP00000242375.3:n.*1091C>T |
| ENST00000411726.6:c.*1091C>T | ENSP00000402374.2:n.*1091C>T |