Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.3442861C>T , CM000666.2:g.3442861C>T | GRCh38 |
| NC_000004.11:g.3444588C>T , CM000666.1:g.3444588C>T | GRCh37 |
| NC_000004.10:g.3414386C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382774.8:c.247C>T MANE Select | ENSP00000372224.4:p.Leu83Phe | |
| ENST00000382774.7:c.247C>T | ENSP00000372224.3:p.Leu83Phe | |
| ENST00000511533.1:c.247C>T | ENSP00000421801.1:p.Leu83Phe | |
| NM_001297439.1:c.247C>T | NP_001284368.1:p.Leu83Phe | |
| NM_001528.3:c.247C>T | NP_001519.1:p.Leu83Phe | |
| XM_011513458.1:c.247C>T | XP_011511760.1:p.Leu83Phe | |
| XR_924945.1:n.274C>T | ||
| NM_001297439.2:c.247C>T | NP_001284368.1:p.Leu83Phe | |
| NM_001528.4:c.247C>T MANE Select | NP_001519.1:p.Leu83Phe |