Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.43352548G>T , CM000663.2:g.43352548G>T | GRCh38 |
| NC_000001.10:g.43818219G>T , CM000663.1:g.43818219G>T | GRCh37 |
| NC_000001.9:g.43590806G>T | NCBI36 |
| NG_007525.1:g.19745G>T , LRG_510:g.19745G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005373.3:c.1684G>T MANE Select | NP_005364.1:p.Glu562Ter |
| ENST00000372470.9:c.1684G>T MANE Select | ENSP00000361548.3:p.Glu562Ter |
| NM_005373.2:c.1684G>T , LRG_510t1:c.1684G>T | NP_005364.1:p.Glu562Ter |
| ENST00000372470.7:c.1684G>T | ENSP00000361548.3:p.Glu562Ter |
| ENST00000413998.7:c.1663G>T | ENSP00000414004.3:p.Glu555Ter |
| ENST00000643351.1:c.342G>T | |
| XM_011541478.1:c.1663G>T | XP_011539780.1:p.Glu555Ter |
| XM_017001320.1:c.1855G>T | XP_016856809.1:p.Glu619Ter |