Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.90916191T>A , CM000672.2:g.90916191T>A | GRCh38 |
| NC_000010.10:g.92675948T>A , CM000672.1:g.92675948T>A | GRCh37 |
| NC_000010.9:g.92665928T>A | NCBI36 |
| NG_023227.1:g.10085A>T , LRG_379:g.10085A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014391.3:c.631A>T MANE Select | NP_055206.2:p.Lys211Ter |
| ENST00000371697.4:c.631A>T MANE Select | ENSP00000360762.3:p.Lys211Ter |
| NM_014391.2:c.631A>T , LRG_379t1:c.631A>T | NP_055206.2:p.Lys211Ter |
| ENST00000371697.3:c.631A>T | ENSP00000360762.3:p.Lys211Ter |