Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94011316C>A , CM000663.2:g.94011316C>A | GRCh38 |
| NC_000001.10:g.94476872C>A , CM000663.1:g.94476872C>A | GRCh37 |
| NC_000001.9:g.94249460C>A | NCBI36 |
| NG_009073.1:g.114834G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000350.3:c.5530G>T MANE Select | NP_000341.2:p.Gly1844Cys |
| ENST00000370225.4:c.5530G>T MANE Select | ENSP00000359245.3:p.Gly1844Cys |
| NM_000350.2:c.5530G>T | NP_000341.2:p.Gly1844Cys |
| ENST00000370225.3:c.5530G>T | ENSP00000359245.3:p.Gly1844Cys |
| ENST00000536513.5:c.1906G>T | ENSP00000439707.2:p.Gly636Cys |