Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965932C>T , CM000670.2:g.37965932C>T | GRCh38 |
| NC_000008.10:g.37823450C>T , CM000670.1:g.37823450C>T | GRCh37 |
| NC_000008.9:g.37942607C>T | NCBI36 |
| NG_011936.1:g.5735G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345060.5:c.538G>A MANE Select | ENSP00000343782.3:p.Val180Ile | |
| ENST00000520341.2:n.666G>A | ||
| ENST00000647937.1:c.22G>A | ENSP00000497740.1:p.Val8Ile | |
| ENST00000345060.4:c.538G>A | ENSP00000343782.3:p.Val180Ile | |
| ENST00000614635.1:c.538G>A | ENSP00000480325.1:p.Val180Ile | |
| NM_000025.2:c.538G>A | NP_000016.1:p.Val180Ile | |
| NM_000025.3:c.538G>A MANE Select | NP_000016.1:p.Val180Ile |