Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.144400126C>T , CM000669.2:g.144400126C>T | GRCh38 |
| NC_000007.13:g.144097219C>T , CM000669.1:g.144097219C>T | GRCh37 |
| NC_000007.12:g.143728152C>T | NCBI36 |
| NG_028979.1:g.15102G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643164.1:c.144+80G>A | ENSP00000495343.1:n.144+80G>A | |
| ENST00000645489.1:c.696+80G>A | ENSP00000496732.1:n.696+80G>A | |
| ENST00000467773.1:c.1031G>A MANE Select | ENSP00000419457.1:p.Arg344His | |
| ENST00000483238.5:c.951+80G>A | ENSP00000419565.1:n.951+80G>A | |
| NM_001080413.3:c.1031G>A MANE Select | NP_001073882.3:p.Arg344His | |
| XM_011515791.1:c.696+80G>A | XP_011514093.1:n.696+80G>A | |
| XM_017011742.2:c.951+80G>A | XP_016867231.1:n.951+80G>A |