Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45804318G>T , CM000681.2:g.45804318G>T | GRCh38 |
| NC_000019.9:g.46307576G>T , CM000681.1:g.46307576G>T | GRCh37 |
| NC_000019.8:g.50999416G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221538.8:c.1587C>A MANE Select | ENSP00000221538.2:p.Ile529= | |
| ENST00000221538.7:c.1587C>A | ENSP00000221538.2:p.Ile529= | |
| ENST00000597055.1:c.1587C>A | ENSP00000472630.1:p.Ile529= | |
| ENST00000600188.5:c.795C>A | ENSP00000471559.1:p.Ile265= | |
| NM_030785.3:c.1587C>A | NP_110412.1:p.Ile529= | |
| XM_011527351.1:c.1587C>A | XP_011525653.1:p.Ile529= | |
| XM_011527351.2:c.1587C>A | XP_011525653.1:p.Ile529= | |
| NM_030785.4:c.1587C>A MANE Select | NP_110412.1:p.Ile529= |