Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.119930104T>A , CM000685.2:g.119930104T>A | GRCh38 |
| NC_000023.10:g.119064067T>A , CM000685.1:g.119064067T>A | GRCh37 |
| NC_000023.9:g.118948095T>A | NCBI36 |
| NG_021260.1:g.18669A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371410.5:c.985A>T MANE Select | ENSP00000360464.3:p.Lys329Ter | |
| ENST00000652253.1:c.981A>T | ||
| ENST00000371410.4:c.985A>T | ENSP00000360464.3:p.Lys329Ter | |
| ENST00000477789.5:n.1913A>T | ||
| NM_024528.3:c.985A>T | NP_078804.2:p.Lys329Ter | |
| XM_017029842.1:c.688A>T | XP_016885331.1:p.Lys230Ter | |
| NM_024528.4:c.985A>T MANE Select | NP_078804.2:p.Lys329Ter |