Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.52692797C>T , CM000663.2:g.52692797C>T | GRCh38 |
| NC_000001.10:g.53158469C>T , CM000663.1:g.53158469C>T | GRCh37 |
| NC_000001.9:g.52931057C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371538.5:c.177G>A MANE Select | ENSP00000360593.3:p.Lys59= | |
| ENST00000371538.4:c.177G>A | ENSP00000360593.3:p.Lys59= | |
| ENST00000486918.1:n.231G>A | ||
| NM_023077.2:c.177G>A | NP_075565.2:p.Lys59= | |
| NM_023077.3:c.177G>A MANE Select | NP_075565.2:p.Lys59= |