Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.144398787T>C , CM000669.2:g.144398787T>C | GRCh38 |
| NC_000007.13:g.144095880T>C , CM000669.1:g.144095880T>C | GRCh37 |
| NC_000007.12:g.143726813T>C | NCBI36 |
| NG_028979.1:g.16441A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001080413.3:c.1469+163A>G MANE Select | NP_001073882.3:n.1469+163A>G |
| ENST00000467773.1:c.1469+163A>G MANE Select | ENSP00000419457.1:n.1469+163A>G |
| ENST00000483238.5:c.1373+163A>G | ENSP00000419565.1:n.1373+163A>G |
| ENST00000643164.1:c.566+163A>G | ENSP00000495343.1:n.566+163A>G |
| ENST00000645489.1:c.1118+163A>G | ENSP00000496732.1:n.1118+163A>G |
| XM_011515791.1:c.1118+163A>G | XP_011514093.1:n.1118+163A>G |
| XM_017011742.2:c.1373+163A>G | XP_016867231.1:n.1373+163A>G |