Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.172889572A>G , CM000665.2:g.172889572A>G | GRCh38 |
| NC_000003.11:g.172607362A>G , CM000665.1:g.172607362A>G | GRCh37 |
| NC_000003.10:g.174090056A>G | NCBI36 |
| NG_021422.1:g.256697T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351008.4:c.1708T>C MANE Select | ENSP00000341765.3:p.Ter570Gln | |
| ENST00000652082.1:c.915T>C | ||
| ENST00000351008.3:c.1708T>C | ENSP00000341765.3:p.Ter570Gln | |
| NM_031955.5:c.1708T>C | NP_114161.3:p.Ter570Gln | |
| NM_031955.6:c.1708T>C MANE Select | NP_114161.3:p.Ter570Gln |