Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154030C= , CM000681.2:g.55154030C= | GRCh38 |
| NC_000019.9:g.55665398C= , CM000681.1:g.55665398C= | GRCh37 |
| NC_000019.8:g.60357210C= | NCBI36 |
| NG_007866.2:g.8703G= , LRG_432:g.8703G= | |
| NG_011829.2:g.209G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.549G= MANE Select | ENSP00000341838.5:p.Lys183= | |
| ENST00000665070.1:c.582G= | ENSP00000499482.1:p.Lys194= | |
| ENST00000344887.9:c.549G= | ENSP00000341838.5:p.Lys183= | |
| ENST00000585806.5:n.548G= | ||
| ENST00000588882.1:c.474G= | ENSP00000466729.1:p.Lys158= | |
| ENST00000589864.1:n.377G= | ||
| NM_000363.4:c.549G= , LRG_432t1:c.549G= | NP_000354.4:p.Lys183= | |
| NM_000363.5:c.549G= MANE Select | NP_000354.4:p.Lys183= |