Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.33054056G>T , CM000675.2:g.33054056G>T | GRCh38 |
| NC_000013.10:g.33628193G>T , CM000675.1:g.33628193G>T | GRCh37 |
| NC_000013.9:g.32526193G>T | NCBI36 |
| NG_011485.1:g.42623G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004795.4:c.1109G>T MANE Select | NP_004786.2:p.Cys370Phe |
| ENST00000380099.4:c.1109G>T MANE Select | ENSP00000369442.3:p.Cys370Phe |
| NM_004795.3:c.1109G>T | NP_004786.2:p.Cys370Phe |
| ENST00000380099.3:c.1109G>T | ENSP00000369442.3:p.Cys370Phe |
| ENST00000487852.1:n.1117G>T | |
| XM_006719895.1:c.188G>T | XP_006719958.1:p.Cys63Phe |
| XM_006719895.2:c.188G>T | XP_006719958.1:p.Cys63Phe |