Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48409579A>T , CM000677.2:g.48409579A>T | GRCh38 |
| NC_000015.9:g.48701776A>T , CM000677.1:g.48701776A>T | GRCh37 |
| NC_000015.8:g.46489068A>T | NCBI36 |
| NG_008805.2:g.241210T>A , LRG_778:g.241210T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682170.1:n.4208T>A | ||
| ENST00000682767.1:n.3324T>A | ||
| ENST00000316623.10:c.*1411T>A MANE Select | ENSP00000325527.5:n.*1411T>A | |
| ENST00000316623.9:c.*1411T>A | ENSP00000325527.5:n.*1411T>A | |
| NM_000138.4:c.*1411T>A , LRG_778t1:c.*1411T>A | NP_000129.3:n.*1411T>A | |
| NM_000138.5:c.*1411T>A MANE Select | NP_000129.3:n.*1411T>A |