Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.89178128C>T , CM000673.2:g.89178128C>T | GRCh38 |
| NC_000011.9:g.88911296C>T , CM000673.1:g.88911296C>T | GRCh37 |
| NC_000011.8:g.88550944C>T | NCBI36 |
| NG_008748.1:g.5257C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000372.5:c.175C>T MANE Select | NP_000363.1:p.Leu59Phe |
| ENST00000263321.6:c.175C>T MANE Select | ENSP00000263321.4:p.Leu59Phe |
| NM_000372.4:c.175C>T | NP_000363.1:p.Leu59Phe |
| ENST00000263321.5:c.175C>T | ENSP00000263321.4:p.Leu59Phe |
| ENST00000526139.1:n.236C>T | |
| XM_011542970.1:c.175C>T | XP_011541272.1:p.Leu59Phe |
| XM_011542970.2:c.175C>T | XP_011541272.1:p.Leu59Phe |
| XR_001748321.1:n.2718-64595G>A | |
| XR_001748322.1:n.2733-64595G>A |