Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11958542C>T , CM000663.2:g.11958542C>T | GRCh38 |
| NC_000001.10:g.12018599C>T , CM000663.1:g.12018599C>T | GRCh37 |
| NC_000001.9:g.11941186C>T | NCBI36 |
| NG_008159.1:g.28854C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000196061.5:c.870C>T MANE Select | ENSP00000196061.4:p.Val290= | |
| ENST00000196061.4:c.870C>T | ENSP00000196061.4:p.Val290= | |
| ENST00000465920.1:n.820C>T | ||
| ENST00000485046.5:n.913C>T | ||
| NM_000302.3:c.870C>T | NP_000293.2:p.Val290= | |
| NM_001316320.1:c.1011C>T | NP_001303249.1:p.Val337= | |
| XM_011541594.1:c.951C>T | XP_011539896.1:p.Val317= | |
| XM_024447707.1:c.204C>T | XP_024303475.1:p.Val68= | |
| NM_000302.4:c.870C>T MANE Select | NP_000293.2:p.Val290= | |
| NM_001316320.2:c.1011C>T | NP_001303249.1:p.Val337= |