Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129739688C>T , CM000671.2:g.129739688C>T | GRCh38 |
| NC_000009.11:g.132501967C>T , CM000671.1:g.132501967C>T | GRCh37 |
| NC_000009.10:g.131541788C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340607.5:c.382G>A MANE Select | ENSP00000342385.4:p.Val128Met | |
| ENST00000340607.4:c.382G>A | ENSP00000342385.4:p.Val128Met | |
| ENST00000481476.1:n.511G>A | ||
| NM_004878.4:c.382G>A | NP_004869.1:p.Val128Met | |
| XM_011519210.1:c.466G>A | XP_011517512.1:p.Val156Met | |
| XM_011519210.2:c.466G>A | XP_011517512.1:p.Val156Met | |
| NM_004878.5:c.382G>A MANE Select | NP_004869.1:p.Val128Met |