Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6936373C>T , CM000674.2:g.6936373C>T | GRCh38 |
| NC_000012.11:g.7045536C>T , CM000674.1:g.7045536C>T | GRCh37 |
| NC_000012.10:g.6915797C>T | NCBI36 |
| NG_008047.1:g.16911C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396684.3:c.1106C>T MANE Select | ENSP00000379915.2:p.Pro369Leu | |
| ENST00000356654.8:c.1106C>T | ENSP00000349076.3:p.Pro369Leu | |
| ENST00000396684.2:c.1106C>T | ENSP00000379915.2:p.Pro369Leu | |
| NM_001007026.1:c.1106C>T | NP_001007027.1:p.Pro369Leu | |
| NM_001940.3:c.1106C>T | NP_001931.2:p.Pro369Leu | |
| NM_001940.4:c.1106C>T MANE Select | NP_001931.2:p.Pro369Leu | |
| NM_001007026.2:c.1106C>T | NP_001007027.1:p.Pro369Leu |