Linked Data
ClinVar Variation Id:
2518870
ClinVar RCV Id:
RCV004296767
dbSNP Id:
rs372144733
ExAC:
2:143742681 A / G
gnomAD v2:
2-143742681-A-G
gnomAD v4:
2-142985112-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.142985112A>G , CM000664.2:g.142985112A>G | GRCh38 |
| NC_000002.11:g.143742681A>G , CM000664.1:g.143742681A>G | GRCh37 |
| NC_000002.10:g.143459151A>G | NCBI36 |
| NG_023254.1:g.112487A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264170.9:c.758A>G MANE Select | ENSP00000264170.4:p.His253Arg | |
| ENST00000264170.8:c.758A>G | ENSP00000264170.4:p.His253Arg | |
| ENST00000375773.6:c.758A>G | ENSP00000364928.2:p.His253Arg | |
| ENST00000409512.5:c.758A>G | ENSP00000386731.1:p.His253Arg | |
| NM_001032998.1:c.758A>G | NP_001028170.1:p.His253Arg | |
| NM_001199241.1:c.758A>G | NP_001186170.1:p.His253Arg | |
| NM_003937.2:c.758A>G | NP_003928.1:p.His253Arg | |
| XM_011512101.1:c.758A>G | XP_011510403.1:p.His253Arg | |
| XM_011512102.1:c.359A>G | XP_011510404.1:p.His120Arg | |
| XM_011512103.1:c.359A>G | XP_011510405.1:p.His120Arg | |
| XM_011512104.1:c.359A>G | XP_011510406.1:p.His120Arg | |
| XM_011512105.1:c.359A>G | XP_011510407.1:p.His120Arg | |
| XR_923058.1:n.850A>G | ||
| XM_011512102.2:c.359A>G | XP_011510404.1:p.His120Arg | |
| XM_017005217.1:c.758A>G | XP_016860706.1:p.His253Arg | |
| XM_024453208.1:c.758A>G | XP_024308976.1:p.His253Arg | |
| NM_003937.3:c.758A>G MANE Select | NP_003928.1:p.His253Arg | |
| NM_001032998.2:c.758A>G | NP_001028170.1:p.His253Arg | |
| NM_001199241.2:c.758A>G | NP_001186170.1:p.His253Arg |