Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.96241173G>T , CM000676.2:g.96241173G>T | GRCh38 |
| NC_000014.8:g.96707510G>T , CM000676.1:g.96707510G>T | GRCh37 |
| NC_000014.7:g.95777263G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001379692.1:c.845G>T MANE Select | NP_001366621.1:p.Cys282Phe |
| ENST00000554311.2:c.845G>T MANE Select | ENSP00000450482.1:p.Cys282Phe |
| NM_000623.3:c.845G>T | NP_000614.1:p.Cys282Phe |
| NM_000623.4:c.845G>T | NP_000614.1:p.Cys282Phe |
| ENST00000539359.1:c.764G>T | ENSP00000438376.1:p.Cys255Phe |
| ENST00000542454.2:c.764G>T | ENSP00000439459.2:p.Cys255Phe |
| ENST00000553811.1:c.74+3992G>T | ENSP00000450984.1:n.74+3992G>T |
| ENST00000554311.1:c.845G>T | ENSP00000450482.1:p.Cys282Phe |