Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.170283002C>T , CM000668.2:g.170283002C>T | GRCh38 |
| NC_000006.11:g.170592090C>T , CM000668.1:g.170592090C>T | GRCh37 |
| NC_000006.10:g.170434015C>T | NCBI36 |
| NG_027940.1:g.12608G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005618.4:c.2152G>A MANE Select | NP_005609.3:p.Val718Ile |
| ENST00000366756.4:c.2152G>A MANE Select | ENSP00000355718.3:p.Val718Ile |
| NM_005618.3:c.2152G>A | NP_005609.3:p.Val718Ile |
| ENST00000366756.3:c.2152G>A | ENSP00000355718.3:p.Val718Ile |
| XM_005266934.2:c.1555G>A | XP_005266991.1:p.Val519Ile |
| XM_005266934.4:c.1555G>A | XP_005266991.1:p.Val519Ile |
| XM_011535758.1:c.2152G>A | XP_011534060.1:p.Val718Ile |