Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.16528186G>A , CM000681.2:g.16528186G>A | GRCh38 |
| NC_000019.9:g.16638997G>A , CM000681.1:g.16638997G>A | GRCh37 |
| NC_000019.8:g.16499997G>A | NCBI36 |
| NG_031959.2:g.105019C>T , LRG_422:g.105019C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000546361.7:c.1199C>T MANE Select | ENSP00000439856.2:p.Pro400Leu | |
| ENST00000198939.6:c.1232C>T | ENSP00000198939.6:p.Pro411Leu | |
| ENST00000409035.1:c.*194-8834C>T | ENSP00000386951.2:n.*194-8834C>T | |
| ENST00000546361.6:c.1199C>T | ENSP00000439856.2:p.Pro400Leu | |
| NM_006387.5:c.1199C>T | NP_006378.3:p.Pro400Leu | |
| NM_006387.6:c.1199C>T MANE Select | NP_006378.3:p.Pro400Leu |