Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.179094992T>A , CM000663.2:g.179094992T>A | GRCh38 |
| NC_000001.10:g.179064127T>A , CM000663.1:g.179064127T>A | GRCh37 |
| NC_000001.9:g.177330750T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367627.8:c.968T>A MANE Select | ENSP00000356599.3:p.Leu323His | |
| ENST00000352445.10:c.943+775T>A | ENSP00000335351.6:n.943+775T>A | |
| ENST00000367627.7:c.968T>A | ENSP00000356599.3:p.Leu323His | |
| NM_022371.3:c.968T>A | NP_071766.2:p.Leu323His | |
| NM_022371.4:c.968T>A MANE Select | NP_071766.2:p.Leu323His |