Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94849995C>T , CM000672.2:g.94849995C>T | GRCh38 |
| NC_000010.10:g.96609752C>T , CM000672.1:g.96609752C>T | GRCh37 |
| NC_000010.9:g.96599742C>T | NCBI36 |
| NG_008384.2:g.92290C>T | |
| NG_008384.3:g.92315C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000769.4:c.1228C>T MANE Select | NP_000760.1:p.Arg410Cys |
| ENST00000371321.9:c.1228C>T MANE Select | ENSP00000360372.3:p.Arg410Cys |
| NM_000769.2:c.1228C>T | NP_000760.1:p.Arg410Cys |
| ENST00000371321.7:c.1228C>T | ENSP00000360372.3:p.Arg410Cys |
| ENST00000464755.1:c.1991C>T | ENSP00000483243.1:n.1991C>T |
| ENST00000645461.1:n.2139C>T |