Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10640885C>G , CM000682.2:g.10640885C>G | GRCh38 |
| NC_000020.10:g.10621533C>G , CM000682.1:g.10621533C>G | GRCh37 |
| NC_000020.9:g.10569533C>G | NCBI36 |
| NG_007496.1:g.38162G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.3097G>C MANE Select | ENSP00000254958.4:p.Asp1033His | |
| ENST00000254958.9:c.3097G>C | ENSP00000254958.4:p.Asp1033His | |
| ENST00000423891.6:n.2963G>C | ||
| ENST00000617357.1:n.392G>C | ||
| NM_000214.2:c.3097G>C | NP_000205.1:p.Asp1033His | |
| NM_000214.3:c.3097G>C MANE Select | NP_000205.1:p.Asp1033His |