Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.6084110C>A , CM000682.2:g.6084110C>A | GRCh38 |
| NC_000020.10:g.6064757C>A , CM000682.1:g.6064757C>A | GRCh37 |
| NC_000020.9:g.6012757C>A | NCBI36 |
| NG_016213.1:g.44435G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017671.5:c.1648G>T MANE Select | NP_060141.3:p.Glu550Ter |
| ENST00000217289.9:c.1648G>T MANE Select | ENSP00000217289.4:p.Glu550Ter |
| NM_017671.4:c.1648G>T | NP_060141.3:p.Glu550Ter |
| ENST00000217289.8:c.1648G>T | ENSP00000217289.4:p.Glu550Ter |
| ENST00000478194.1:n.608G>T | |
| ENST00000536936.1:c.877G>T | ENSP00000441063.1:p.Glu293Ter |
| ENST00000699095.1:c.1648G>T | ENSP00000514127.1:p.Glu550Ter |
| XM_024451935.1:c.1648G>T | XP_024307703.1:p.Glu550Ter |