Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61204153C>T , CM000673.2:g.61204153C>T | GRCh38 |
| NC_000011.9:g.60971625C>T , CM000673.1:g.60971625C>T | GRCh37 |
| NC_000011.8:g.60728201C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325558.11:c.103C>T MANE Select | ENSP00000322192.6:p.Arg35Cys | |
| ENST00000325558.10:c.103C>T | ENSP00000322192.6:p.Arg35Cys | |
| ENST00000535551.1:n.847C>T | ||
| ENST00000537954.5:n.153C>T | ||
| ENST00000539649.1:n.153C>T | ||
| NM_001079807.2:c.103C>T | NP_001073275.1:p.Arg35Cys | |
| NM_001079807.3:c.103C>T | NP_001073275.1:p.Arg35Cys | |
| NM_001079807.4:c.103C>T MANE Select | NP_001073275.1:p.Arg35Cys |