Linked Data
ClinVar Variation Id:
958395
dbSNP Id:
rs1561645172
gnomAD v3:
5-162103901-G-A
gnomAD v4:
5-162103901-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.162103901G>A , CM000667.2:g.162103901G>A | GRCh38 |
| NC_000005.9:g.161530907G>A , CM000667.1:g.161530907G>A | GRCh37 |
| NC_000005.8:g.161463485G>A | NCBI36 |
| NG_009290.1:g.41260G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356592.8:c.606G>A | ||
| ENST00000361925.9:c.764G>A | ENSP00000354651.5:p.Arg255His | |
| ENST00000522053.2:n.535G>A | ||
| ENST00000523372.2:c.727G>A | ||
| ENST00000638552.1:c.359G>A | ENSP00000491763.1:p.Arg120His | |
| ENST00000638660.1:c.359G>A | ENSP00000492869.1:p.Arg120His | |
| ENST00000638772.1:c.644G>A | ENSP00000491557.1:p.Arg215His | |
| ENST00000638782.1:n.706G>A | ||
| ENST00000638877.1:c.521G>A | ||
| ENST00000639046.1:c.35G>A | ENSP00000492659.1:p.Arg12His | |
| ENST00000639111.2:c.644G>A | ENSP00000492125.2:p.Arg215His | |
| ENST00000639213.2:c.644G>A MANE Select | ENSP00000491909.2:p.Arg215His | |
| ENST00000639278.1:c.572G>A | ENSP00000491958.1:p.Arg191His | |
| ENST00000639384.1:c.644G>A | ENSP00000491240.1:p.Arg215His | |
| ENST00000639424.1:c.107+35795G>A | ENSP00000491245.1:n.107+35795G>A | |
| ENST00000639683.1:c.578G>A | ENSP00000492581.1:p.Arg193His | |
| ENST00000639975.1:c.578G>A | ENSP00000492096.1:p.Arg193His | |
| ENST00000640574.1:c.359G>A | ENSP00000491582.1:p.Arg120His | |
| ENST00000640739.1:n.3175G>A | ||
| ENST00000640910.1:c.82G>A | ||
| ENST00000640985.1:c.557G>A | ENSP00000492293.1:p.Arg186His | |
| ENST00000641017.1:c.644G>A | ENSP00000493461.1:p.Arg215His | |
| ENST00000356592.7:c.644G>A | ENSP00000349000.3:p.Arg215His | |
| ENST00000361925.8:c.644G>A | ENSP00000354651.4:p.Arg215His | |
| ENST00000414552.6:c.764G>A | ENSP00000410732.2:p.Arg255His | |
| ENST00000522053.1:c.359G>A | ENSP00000430182.1:p.Arg120His | |
| ENST00000522990.5:c.*246G>A | ENSP00000430732.1:n.*246G>A | |
| ENST00000523372.1:c.765G>A | ENSP00000430124.1:n.765G>A | |
| NM_000816.3:c.644G>A | NP_000807.2:p.Arg215His | |
| NM_198903.2:c.764G>A | NP_944493.2:p.Arg255His | |
| NM_198904.2:c.644G>A | NP_944494.1:p.Arg215His | |
| NM_001375339.1:c.635G>A | NP_001362268.1:p.Arg212His | |
| NM_001375340.1:c.644G>A | NP_001362269.1:p.Arg215His | |
| NM_001375341.1:c.644G>A | NP_001362270.1:p.Arg215His | |
| NM_001375342.1:c.644G>A | NP_001362271.1:p.Arg215His | |
| NM_001375343.1:c.764G>A | NP_001362272.1:p.Arg255His | |
| NM_001375344.1:c.644G>A | NP_001362273.1:p.Arg215His | |
| NM_001375345.1:c.578G>A | NP_001362274.1:p.Arg193His | |
| NM_001375346.1:c.578G>A | NP_001362275.1:p.Arg193His | |
| NM_001375347.1:c.557G>A | NP_001362276.1:p.Arg186His | |
| NM_001375348.1:c.224G>A | NP_001362277.1:p.Arg75His | |
| NM_001375349.1:c.359G>A | NP_001362278.1:p.Arg120His | |
| NM_001375350.1:c.224G>A | NP_001362279.1:p.Arg75His | |
| NM_198904.3:c.644G>A | NP_944494.1:p.Arg215His | |
| NM_198904.4:c.644G>A MANE Select | NP_944494.1:p.Arg215His |