Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.121048504C>T , CM000685.2:g.121048504C>T | GRCh38 |
| NC_000023.10:g.120182358C>T , CM000685.1:g.120182358C>T | GRCh37 |
| NC_000023.9:g.120010039C>T | NCBI36 |
| NG_016456.1:g.5897C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000328078.3:c.820C>T MANE Select | ENSP00000327589.1:p.Arg274Cys | |
| ENST00000328078.2:c.820C>T | ENSP00000327589.1:p.Arg274Cys | |
| NM_012084.3:c.820C>T | NP_036216.2:p.Arg274Cys | |
| NM_012084.4:c.820C>T MANE Select | NP_036216.2:p.Arg274Cys |