Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19959369C>T , CM000670.2:g.19959369C>T | GRCh38 |
| NC_000008.10:g.19816880C>T , CM000670.1:g.19816880C>T | GRCh37 |
| NC_000008.9:g.19861160C>T | NCBI36 |
| NG_008855.1:g.25299C>T | |
| NG_008855.2:g.62653C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.1128C>T MANE Select | ENSP00000497642.1:p.Ile376= | |
| ENST00000650478.1:c.80-1532C>T | ENSP00000497560.1:n.80-1532C>T | |
| ENST00000311322.8:c.1128C>T | ENSP00000309757.6:p.Ile376= | |
| NM_000237.2:c.1128C>T | NP_000228.1:p.Ile376= | |
| NM_000237.3:c.1128C>T MANE Select | NP_000228.1:p.Ile376= |