Linked Data
ClinVar Variation Id:
664999
dbSNP Id:
rs1207885001
gnomAD v2:
3-50380375-T-C
gnomAD v3:
3-50342944-T-C
gnomAD v4:
3-50342944-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.50342944T>C , CM000665.2:g.50342944T>C | GRCh38 |
| NC_000003.11:g.50380375T>C , CM000665.1:g.50380375T>C | GRCh37 |
| NC_000003.10:g.50355379T>C | NCBI36 |
| NG_023270.1:g.2993A>G | |
| NG_042828.1:g.7803A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231749.8:c.674A>G MANE Select | ENSP00000231749.3:p.His225Arg | |
| ENST00000231749.7:c.674A>G | ENSP00000231749.3:p.His225Arg | |
| ENST00000360165.7:c.599+174A>G | ENSP00000353289.3:n.599+174A>G | |
| ENST00000442887.1:c.545A>G | ENSP00000393687.1:p.His182Arg | |
| ENST00000443080.5:c.*426A>G | ENSP00000415661.1:n.*426A>G | |
| ENST00000475688.1:n.225A>G | ||
| NM_001308379.1:c.599+174A>G | NP_001295308.1:n.599+174A>G | |
| NM_015896.2:c.674A>G | NP_056980.2:p.His225Arg | |
| NM_015896.3:c.674A>G | NP_056980.2:p.His225Arg | |
| XM_005265216.2:c.437A>G | XP_005265273.1:p.His146Arg | |
| XM_005265216.3:c.437A>G | XP_005265273.1:p.His146Arg | |
| NM_015896.4:c.674A>G MANE Select | NP_056980.2:p.His225Arg | |
| NM_001308379.2:c.599+174A>G | NP_001295308.1:n.599+174A>G |