Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.144404635C>A , CM000669.2:g.144404635C>A | GRCh38 |
| NC_000007.13:g.144101728C>A , CM000669.1:g.144101728C>A | GRCh37 |
| NC_000007.12:g.143732661C>A | NCBI36 |
| NG_028979.1:g.10593G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001080413.3:c.131G>T MANE Select | NP_001073882.3:p.Arg44Leu |
| ENST00000467773.1:c.131G>T MANE Select | ENSP00000419457.1:p.Arg44Leu |
| ENST00000483238.5:c.131G>T | ENSP00000419565.1:p.Arg44Leu |
| XM_017011742.2:c.131G>T | XP_016867231.1:p.Arg44Leu |