Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120633215C>G , CM000665.2:g.120633215C>G | GRCh38 |
| NC_000003.11:g.120352062C>G , CM000665.1:g.120352062C>G | GRCh37 |
| NC_000003.10:g.121834752C>G | NCBI36 |
| NG_011957.1:g.54267G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000187.4:c.1120G>C MANE Select | NP_000178.2:p.Asp374His |
| ENST00000283871.10:c.1120G>C MANE Select | ENSP00000283871.5:p.Asp374His |
| NM_000187.3:c.1120G>C | NP_000178.2:p.Asp374His |
| ENST00000283871.9:c.1120G>C | ENSP00000283871.5:p.Asp374His |
| ENST00000470321.1:n.460G>C | |
| ENST00000492108.5:c.399G>C | ENSP00000419838.1:n.399G>C |
| XM_005247412.1:c.895G>C | XP_005247469.1:p.Asp299His |
| XM_005247412.2:c.895G>C | XP_005247469.1:p.Asp299His |
| XM_017006277.2:c.697G>C | XP_016861766.1:p.Asp233His |