Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.43352534C>A , CM000663.2:g.43352534C>A | GRCh38 |
| NC_000001.10:g.43818205C>A , CM000663.1:g.43818205C>A | GRCh37 |
| NC_000001.9:g.43590792C>A | NCBI36 |
| NG_007525.1:g.19731C>A , LRG_510:g.19731C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005373.3:c.1670C>A MANE Select | NP_005364.1:p.Ser557Ter |
| ENST00000372470.9:c.1670C>A MANE Select | ENSP00000361548.3:p.Ser557Ter |
| NM_005373.2:c.1670C>A , LRG_510t1:c.1670C>A | NP_005364.1:p.Ser557Ter |
| ENST00000372470.7:c.1670C>A | ENSP00000361548.3:p.Ser557Ter |
| ENST00000413998.7:c.1649C>A | ENSP00000414004.3:p.Ser550Ter |
| ENST00000643351.1:c.328C>A | |
| XM_011541478.1:c.1649C>A | XP_011539780.1:p.Ser550Ter |
| XM_017001320.1:c.1841C>A | XP_016856809.1:p.Ser614Ter |