Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.46360664G>C , CM000664.2:g.46360664G>C | GRCh38 |
| NC_000002.11:g.46587803G>C , CM000664.1:g.46587803G>C | GRCh37 |
| NC_000002.10:g.46441307G>C | NCBI36 |
| NG_016000.1:g.68263G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001430.5:c.481G>C MANE Select | NP_001421.2:p.Asp161His |
| ENST00000263734.5:c.481G>C MANE Select | ENSP00000263734.3:p.Asp161His |
| NM_001430.4:c.481G>C | NP_001421.2:p.Asp161His |
| ENST00000263734.4:c.481G>C | ENSP00000263734.3:p.Asp161His |
| ENST00000449347.5:c.481G>C | ENSP00000406137.1:p.Asp161His |
| ENST00000463191.1:n.300G>C | |
| XM_011532698.1:c.520G>C | XP_011531000.1:p.Asp174His |
| XM_011532698.2:c.520G>C | XP_011531000.1:p.Asp174His |