Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.43352638C>T , CM000663.2:g.43352638C>T | GRCh38 |
| NC_000001.10:g.43818309C>T , CM000663.1:g.43818309C>T | GRCh37 |
| NC_000001.9:g.43590896C>T | NCBI36 |
| NG_007525.1:g.19835C>T , LRG_510:g.19835C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005373.3:c.1774C>T MANE Select | NP_005364.1:p.Arg592Ter |
| ENST00000372470.9:c.1774C>T MANE Select | ENSP00000361548.3:p.Arg592Ter |
| NM_005373.2:c.1774C>T , LRG_510t1:c.1774C>T | NP_005364.1:p.Arg592Ter |
| ENST00000372470.7:c.1774C>T | ENSP00000361548.3:p.Arg592Ter |
| ENST00000413998.7:c.1753C>T | ENSP00000414004.3:p.Arg585Ter |
| ENST00000643351.1:c.432C>T | |
| XM_011541478.1:c.1753C>T | XP_011539780.1:p.Arg585Ter |
| XM_017001320.1:c.1945C>T | XP_016856809.1:p.Arg649Ter |