Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160164253C>T , CM000663.2:g.160164253C>T | GRCh38 |
| NC_000001.10:g.160134043C>T , CM000663.1:g.160134043C>T | GRCh37 |
| NC_000001.9:g.158400667C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368081.9:c.876C>T MANE Select | ENSP00000357060.4:p.Ile292= | |
| ENST00000368081.8:c.876C>T | ENSP00000357060.4:p.Ile292= | |
| ENST00000477338.5:c.876C>T | ENSP00000434272.1:p.Ile292= | |
| NM_144699.3:c.876C>T | NP_653300.2:p.Ile292= | |
| XM_011509582.1:c.699C>T | XP_011507884.1:p.Ile233= | |
| NM_144699.4:c.876C>T MANE Select | NP_653300.2:p.Ile292= |