Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153729301C>T , CM000685.2:g.153729301C>T | GRCh38 |
| NC_000023.10:g.152994756C>T , CM000685.1:g.152994756C>T | GRCh37 |
| NC_000023.9:g.152647950C>T | NCBI36 |
| NG_009022.2:g.9434C>T | |
| NG_023231.1:g.446G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000033.4:c.970C>T MANE Select | NP_000024.2:p.Arg324Cys |
| ENST00000218104.6:c.970C>T MANE Select | ENSP00000218104.3:p.Arg324Cys |
| NM_000033.3:c.970C>T | NP_000024.2:p.Arg324Cys |
| ENST00000218104.5:c.970C>T | ENSP00000218104.3:p.Arg324Cys |
| ENST00000370129.4:c.415C>T | ENSP00000359147.3:p.Arg139Cys |
| XR_938507.1:n.1386C>T | |
| XR_938507.2:n.1386C>T |