Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11958554C>T , CM000663.2:g.11958554C>T | GRCh38 |
| NC_000001.10:g.12018611C>T , CM000663.1:g.12018611C>T | GRCh37 |
| NC_000001.9:g.11941198C>T | NCBI36 |
| NG_008159.1:g.28866C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000196061.5:c.882C>T MANE Select | ENSP00000196061.4:p.Ile294= | |
| ENST00000196061.4:c.882C>T | ENSP00000196061.4:p.Ile294= | |
| ENST00000465920.1:n.832C>T | ||
| ENST00000485046.5:n.925C>T | ||
| NM_000302.3:c.882C>T | NP_000293.2:p.Ile294= | |
| NM_001316320.1:c.1023C>T | NP_001303249.1:p.Ile341= | |
| XM_011541594.1:c.963C>T | XP_011539896.1:p.Ile321= | |
| XM_024447707.1:c.216C>T | XP_024303475.1:p.Ile72= | |
| NM_000302.4:c.882C>T MANE Select | NP_000293.2:p.Ile294= | |
| NM_001316320.2:c.1023C>T | NP_001303249.1:p.Ile341= |