Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151259893G>A , CM000667.2:g.151259893G>A | GRCh38 |
| NC_000005.9:g.150639454G>A , CM000667.1:g.150639454G>A | GRCh37 |
| NC_000005.8:g.150619647G>A | NCBI36 |
| NG_009059.1:g.11842G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357164.4:c.220G>A MANE Select | ENSP00000349687.3:p.Val74Ile | |
| ENST00000357164.3:c.220G>A | ENSP00000349687.3:p.Val74Ile | |
| ENST00000523004.1:c.95G>A | ||
| ENST00000523466.5:c.265G>A | ENSP00000429100.1:p.Val89Ile | |
| NM_000405.4:c.220G>A | NP_000396.2:p.Val74Ile | |
| NM_001167607.1:c.220G>A | NP_001161079.1:p.Val74Ile | |
| NM_000405.5:c.220G>A MANE Select | NP_000396.2:p.Val74Ile | |
| NM_001167607.2:c.220G>A | NP_001161079.1:p.Val74Ile | |
| NM_001167607.3:c.220G>A | NP_001161079.1:p.Val74Ile |