Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77570439G>A , CM000676.2:g.77570439G>A | GRCh38 |
| NC_000014.8:g.78036782G>A , CM000676.1:g.78036782G>A | GRCh37 |
| NC_000014.7:g.77106535G>A | NCBI36 |
| NG_028282.1:g.51329C>T , LRG_371:g.51329C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686959.1:n.1432C>T | ||
| ENST00000687688.1:n.464C>T | ||
| ENST00000691887.1:n.572C>T | ||
| ENST00000692906.1:n.433C>T | ||
| ENST00000216484.7:c.701C>T MANE Select | ENSP00000216484.2:p.Ala234Val | |
| ENST00000216484.6:c.701C>T | ENSP00000216484.2:p.Ala234Val | |
| ENST00000554901.1:c.510C>T | ||
| NM_004863.3:c.701C>T , LRG_371t1:c.701C>T | NP_004854.1:p.Ala234Val | |
| XM_011537384.1:c.701C>T | XP_011535686.1:p.Ala234Val | |
| XM_011537384.2:c.701C>T | XP_011535686.1:p.Ala234Val | |
| NM_004863.4:c.701C>T MANE Select | NP_004854.1:p.Ala234Val |