Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.223752865C>T , CM000663.2:g.223752865C>T | GRCh38 |
| NC_000001.10:g.223940567C>T , CM000663.1:g.223940567C>T | GRCh37 |
| NC_000001.9:g.222007190C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001748.5:c.1044C>T MANE Select | NP_001739.3:p.Leu348= |
| ENST00000295006.6:c.1044C>T MANE Select | ENSP00000295006.5:p.Leu348= |
| NM_001146068.1:c.810C>T | NP_001139540.1:p.Leu270= |
| NM_001146068.2:c.810C>T | NP_001139540.1:p.Leu270= |
| NM_001748.4:c.1044C>T | NP_001739.2:p.Leu348= |
| ENST00000295006.5:c.1044C>T | ENSP00000295006.5:p.Leu348= |
| ENST00000433674.6:c.810C>T | ENSP00000413158.2:p.Leu270= |
| ENST00000480581.1:n.123C>T | |
| XM_011544286.1:c.1044C>T | XP_011542588.1:p.Leu348= |
| XR_002957688.1:n.1067C>T |