Linked Data
dbSNP Id:
rs377240498
ExAC:
2:169801198 C / G
gnomAD v2:
2-169801198-C-G
gnomAD v3:
2-168944688-C-G
gnomAD v4:
2-168944688-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.168944688C>G , CM000664.2:g.168944688C>G | GRCh38 |
| NC_000002.11:g.169801198C>G , CM000664.1:g.169801198C>G | GRCh37 |
| NC_000002.10:g.169509444C>G | NCBI36 |
| NG_007374.1:g.91636G>C | |
| NG_007374.2:g.91709G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649448.1:c.844G>C | ENSP00000497165.1:p.Asp282His | |
| ENST00000650372.1:c.2527G>C MANE Select | ENSP00000497931.1:p.Asp843His | |
| ENST00000263817.6:c.2527G>C | ENSP00000263817.6:p.Asp843His | |
| ENST00000439188.1:c.1216G>C | ENSP00000416058.1:n.1216G>C | |
| NM_003742.2:c.2527G>C | NP_003733.2:p.Asp843His | |
| XM_006712817.2:c.2569G>C | XP_006712880.1:p.Asp857His | |
| XM_011512077.1:c.2629G>C | XP_011510379.1:p.Asp877His | |
| XM_011512078.1:c.2629G>C | XP_011510380.1:p.Asp877His | |
| XM_011512079.1:c.2629G>C | XP_011510381.1:p.Asp877His | |
| XM_011512080.1:c.2629G>C | XP_011510382.1:p.Asp877His | |
| XM_011512081.1:c.853G>C | XP_011510383.1:p.Asp285His | |
| NM_003742.4:c.2527G>C MANE Select | NP_003733.2:p.Asp843His | |
| XM_006712817.3:c.2569G>C | XP_006712880.1:p.Asp857His | |
| XM_011512077.2:c.2629G>C | XP_011510379.1:p.Asp877His | |
| XM_011512078.2:c.2629G>C | XP_011510380.1:p.Asp877His | |
| XM_011512080.2:c.2629G>C | XP_011510382.1:p.Asp877His | |
| XM_011512081.2:c.853G>C | XP_011510383.1:p.Asp285His | |
| XM_017005165.1:c.2629G>C | XP_016860654.1:p.Asp877His | |
| XM_017005166.1:c.1858G>C | XP_016860655.1:p.Asp620His | |
| XM_017005167.1:c.1312G>C | XP_016860656.1:p.Asp438His |