Linked Data
ClinVar Variation Id:
3097852
ClinVar RCV Id:
RCV004390165
dbSNP Id:
rs772194057
gnomAD v3:
5-162153256-A-G
gnomAD v4:
5-162153256-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.162153256A>G , CM000667.2:g.162153256A>G | GRCh38 |
| NC_000005.9:g.161580262A>G , CM000667.1:g.161580262A>G | GRCh37 |
| NC_000005.8:g.161512840A>G | NCBI36 |
| NG_009290.1:g.90615A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356592.8:c.1317A>G | ||
| ENST00000361925.9:c.1412A>G | ENSP00000354651.5:p.His471Arg | |
| ENST00000523372.2:c.1375A>G | ||
| ENST00000638253.1:n.570A>G | ||
| ENST00000638552.1:c.1007A>G | ENSP00000491763.1:p.His336Arg | |
| ENST00000638660.1:c.1031A>G | ENSP00000492869.1:p.His344Arg | |
| ENST00000638772.1:c.*3913A>G | ENSP00000491557.1:n.*3913A>G | |
| ENST00000638877.1:c.1193A>G | ||
| ENST00000639046.1:c.683A>G | ENSP00000492659.1:p.His228Arg | |
| ENST00000639111.2:c.1292A>G | ENSP00000492125.2:p.His431Arg | |
| ENST00000639213.2:c.1316A>G MANE Select | ENSP00000491909.2:p.His439Arg | |
| ENST00000639278.1:c.1979A>G | ENSP00000491958.1:n.1979A>G | |
| ENST00000639384.1:c.*1497A>G | ENSP00000491240.1:n.*1497A>G | |
| ENST00000639424.1:c.*516A>G | ENSP00000491245.1:n.*516A>G | |
| ENST00000639683.1:c.1250A>G | ENSP00000492581.1:p.His417Arg | |
| ENST00000639975.1:c.1226A>G | ENSP00000492096.1:p.His409Arg | |
| ENST00000640500.1:n.590A>G | ||
| ENST00000640739.1:n.6263A>G | ||
| ENST00000640910.1:c.754A>G | ||
| ENST00000640985.1:c.1229A>G | ENSP00000492293.1:p.His410Arg | |
| ENST00000641017.1:c.1385A>G | ENSP00000493461.1:p.His462Arg | |
| ENST00000356592.7:c.1316A>G | ENSP00000349000.3:p.His439Arg | |
| ENST00000361925.8:c.1292A>G | ENSP00000354651.4:p.His431Arg | |
| ENST00000414552.6:c.1436A>G | ENSP00000410732.2:p.His479Arg | |
| ENST00000522990.5:c.*894A>G | ENSP00000430732.1:n.*894A>G | |
| ENST00000523372.1:c.1413A>G | ENSP00000430124.1:n.1413A>G | |
| NM_000816.3:c.1292A>G | NP_000807.2:p.His431Arg | |
| NM_198903.2:c.1436A>G | NP_944493.2:p.His479Arg | |
| NM_198904.2:c.1316A>G | NP_944494.1:p.His439Arg | |
| NM_001375339.1:c.1307A>G | NP_001362268.1:p.His436Arg | |
| NM_001375340.1:c.*150A>G | NP_001362269.1:n.*150A>G | |
| NM_001375341.1:c.1313A>G | NP_001362270.1:p.His438Arg | |
| NM_001375342.1:c.1289A>G | NP_001362271.1:p.His430Arg | |
| NM_001375343.1:c.1412A>G | NP_001362272.1:p.His471Arg | |
| NM_001375344.1:c.1355A>G | NP_001362273.1:p.His452Arg | |
| NM_001375345.1:c.1226A>G | NP_001362274.1:p.His409Arg | |
| NM_001375346.1:c.1250A>G | NP_001362275.1:p.His417Arg | |
| NM_001375347.1:c.1229A>G | NP_001362276.1:p.His410Arg | |
| NM_001375348.1:c.872A>G | NP_001362277.1:p.His291Arg | |
| NM_001375349.1:c.1007A>G | NP_001362278.1:p.His336Arg | |
| NM_001375350.1:c.896A>G | NP_001362279.1:p.His299Arg | |
| NM_198904.3:c.1316A>G | NP_944494.1:p.His439Arg | |
| NM_198904.4:c.1316A>G MANE Select | NP_944494.1:p.His439Arg |