Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.58782683C>T , CM000663.2:g.58782683C>T | GRCh38 |
| NC_000001.10:g.59248355C>T , CM000663.1:g.59248355C>T | GRCh37 |
| NC_000001.9:g.59020943C>T | NCBI36 |
| NG_047027.1:g.6431G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710273.1:c.454G>A | ENSP00000518166.1:p.Val152Ile | |
| ENST00000371222.4:c.388G>A MANE Select | ENSP00000360266.2:p.Val130Ile | |
| ENST00000678696.1:c.388G>A | ENSP00000503132.1:p.Val130Ile | |
| ENST00000371222.3:c.388G>A | ENSP00000360266.2:p.Val130Ile | |
| NM_002228.3:c.388G>A | NP_002219.1:p.Val130Ile | |
| NM_002228.4:c.388G>A MANE Select | NP_002219.1:p.Val130Ile |