Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.144400249C>T , CM000669.2:g.144400249C>T | GRCh38 |
| NC_000007.13:g.144097342C>T , CM000669.1:g.144097342C>T | GRCh37 |
| NC_000007.12:g.143728275C>T | NCBI36 |
| NG_028979.1:g.14979G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643164.1:c.101G>A | ENSP00000495343.1:p.Arg34Gln | |
| ENST00000645489.1:c.653G>A | ENSP00000496732.1:p.Arg218Gln | |
| ENST00000467773.1:c.908G>A MANE Select | ENSP00000419457.1:p.Arg303Gln | |
| ENST00000483238.5:c.908G>A | ENSP00000419565.1:p.Arg303Gln | |
| NM_001080413.3:c.908G>A MANE Select | NP_001073882.3:p.Arg303Gln | |
| XM_011515791.1:c.653G>A | XP_011514093.1:p.Arg218Gln | |
| XM_017011742.2:c.908G>A | XP_016867231.1:p.Arg303Gln |