Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152649133C= , CM000669.2:g.152649133C= | GRCh38 |
| NC_000007.13:g.152346218C= , CM000669.1:g.152346218C= | GRCh37 |
| NC_000007.12:g.151977151C= | NCBI36 |
| NG_027988.1:g.32033G= | |
| NG_027988.2:g.32033G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698506.1:c.184G= | ENSP00000513758.1:p.Val62= | |
| ENST00000359321.2:c.352G= MANE Select | ENSP00000352271.1:p.Val118= | |
| ENST00000359321.1:c.352G= | ENSP00000352271.1:p.Val118= | |
| ENST00000495707.1:n.374G= | ||
| NM_005431.1:c.352G= | NP_005422.1:p.Val118= | |
| NM_005431.2:c.352G= MANE Select | NP_005422.1:p.Val118= |