Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.16535532C>T , CM000681.2:g.16535532C>T | GRCh38 |
| NC_000019.9:g.16646343C>T , CM000681.1:g.16646343C>T | GRCh37 |
| NC_000019.8:g.16507343C>T | NCBI36 |
| NG_031959.2:g.97673G>A , LRG_422:g.97673G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000546361.7:c.304G>A MANE Select | ENSP00000439856.2:p.Ala102Thr | |
| ENST00000198939.6:c.304G>A | ENSP00000198939.6:p.Ala102Thr | |
| ENST00000409035.1:c.*194-16180G>A | ENSP00000386951.2:n.*194-16180G>A | |
| ENST00000546361.6:c.304G>A | ENSP00000439856.2:p.Ala102Thr | |
| ENST00000546538.1:n.445G>A | ||
| NM_006387.5:c.304G>A | NP_006378.3:p.Ala102Thr | |
| NM_006387.6:c.304G>A MANE Select | NP_006378.3:p.Ala102Thr |