Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.93998061C>G , CM000663.2:g.93998061C>G | GRCh38 |
| NC_000001.10:g.94463617C>G , CM000663.1:g.94463617C>G | GRCh37 |
| NC_000001.9:g.94236205C>G | NCBI36 |
| NG_009073.1:g.128089G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000350.3:c.6529G>C MANE Select | NP_000341.2:p.Asp2177His |
| ENST00000370225.4:c.6529G>C MANE Select | ENSP00000359245.3:p.Asp2177His |
| NM_000350.2:c.6529G>C | NP_000341.2:p.Asp2177His |
| ENST00000370225.3:c.6529G>C | ENSP00000359245.3:p.Asp2177His |
| ENST00000536513.5:c.2905G>C | ENSP00000439707.2:p.Asp969His |