Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77507882C>T , CM000676.2:g.77507882C>T | GRCh38 |
| NC_000014.8:g.77974225C>T , CM000676.1:g.77974225C>T | GRCh37 |
| NC_000014.7:g.77043978C>T | NCBI36 |
| NG_028282.1:g.113886G>A , LRG_371:g.113886G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686627.1:n.5123G>A | ||
| ENST00000687688.1:n.5854G>A | ||
| ENST00000692906.1:n.5823G>A | ||
| ENST00000216484.7:c.*4402G>A MANE Select | ENSP00000216484.2:n.*4402G>A | |
| ENST00000216484.6:c.*4402G>A | ENSP00000216484.2:n.*4402G>A | |
| NM_004863.3:c.*4402G>A , LRG_371t1:c.*4402G>A | NP_004854.1:n.*4402G>A | |
| NM_004863.4:c.*4402G>A MANE Select | NP_004854.1:n.*4402G>A |