Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.10415730C>G , CM000674.2:g.10415730C>G | GRCh38 |
| NC_000012.11:g.10568329C>G , CM000674.1:g.10568329C>G | GRCh37 |
| NC_000012.10:g.10459596C>G | NCBI36 |
| NG_029682.1:g.9866G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002261.3:c.652G>C MANE Select | NP_002252.2:p.Asp218His |
| ENST00000396439.7:c.652G>C MANE Select | ENSP00000379716.3:p.Asp218His |
| NM_002261.2:c.652G>C | NP_002252.2:p.Asp218His |
| NM_007333.2:c.652G>C | NP_031359.2:p.Asp218His |
| ENST00000381903.2:c.652G>C | ENSP00000371328.2:p.Asp218His |
| ENST00000396439.6:c.652G>C | ENSP00000379716.2:p.Asp218His |
| ENST00000539033.1:c.652G>C | ENSP00000437563.1:p.Asp218His |