Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5603302C>T , CM000669.2:g.5603302C>T | GRCh38 |
| NC_000007.13:g.5642933C>T , CM000669.1:g.5642933C>T | GRCh37 |
| NC_000007.12:g.5609459C>T | NCBI36 |
| NG_030004.1:g.15498C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382361.8:c.878C>T MANE Select | ENSP00000371798.3:p.Thr293Ile | |
| ENST00000382361.7:c.878C>T | ENSP00000371798.3:p.Thr293Ile | |
| ENST00000405801.2:c.44C>T | ENSP00000383982.2:p.Thr15Ile | |
| ENST00000444748.5:c.44C>T | ENSP00000404506.1:p.Thr15Ile | |
| ENST00000447103.5:c.44C>T | ENSP00000409967.1:p.Thr15Ile | |
| ENST00000473330.1:n.431C>T | ||
| NM_003088.3:c.878C>T | NP_003079.1:p.Thr293Ile | |
| NM_003088.4:c.878C>T MANE Select | NP_003079.1:p.Thr293Ile |