Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133352708G= , CM000671.2:g.133352708G= | GRCh38 |
| NC_000009.10:g.135209384G= | NCBI36 |
| NG_008477.1:g.8799C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371974.8:c.574C= MANE Select | ENSP00000361042.3:p.Arg192= | |
| ENST00000371974.7:c.574C= | ENSP00000361042.3:p.Arg192= | |
| ENST00000437995.1:n.484C= | ||
| ENST00000495952.5:n.564C= | ||
| ENST00000615505.4:c.247C= | ENSP00000482067.1:p.Arg83= | |
| NM_001280787.1:c.247C= | NP_001267716.1:p.Arg83= | |
| NM_003172.3:c.574C= | NP_003163.1:p.Arg192= | |
| XM_011518942.1:c.247C= | XP_011517244.1:p.Arg83= | |
| NM_003172.4:c.574C= MANE Select | NP_003163.1:p.Arg192= |