Linked Data
ClinVar Variation Id:
1089374
ClinVar RCV Id:
RCV001408170
dbSNP Id:
rs774964109
ExAC:
5:161576178 C / A
gnomAD v2:
5-161576178-C-A
gnomAD v3:
5-162149172-C-A
gnomAD v4:
5-162149172-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.162149172C>A , CM000667.2:g.162149172C>A | GRCh38 |
| NC_000005.9:g.161576178C>A , CM000667.1:g.161576178C>A | GRCh37 |
| NC_000005.8:g.161508756C>A | NCBI36 |
| NG_009290.1:g.86531C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356592.8:c.988C>A | ||
| ENST00000361925.9:c.1107C>A | ENSP00000354651.5:p.Val369= | |
| ENST00000523372.2:c.1070C>A | ||
| ENST00000638253.1:n.241C>A | ||
| ENST00000638552.1:c.702C>A | ENSP00000491763.1:p.Val234= | |
| ENST00000638660.1:c.702C>A | ENSP00000492869.1:p.Val234= | |
| ENST00000638772.1:c.987C>A | ENSP00000491557.1:p.Val329= | |
| ENST00000638877.1:c.864C>A | ||
| ENST00000639046.1:c.378C>A | ENSP00000492659.1:p.Val126= | |
| ENST00000639111.2:c.987C>A | ENSP00000492125.2:p.Val329= | |
| ENST00000639213.2:c.987C>A MANE Select | ENSP00000491909.2:p.Val329= | |
| ENST00000639278.1:c.915C>A | ENSP00000491958.1:p.Val305= | |
| ENST00000639384.1:c.987C>A | ENSP00000491240.1:p.Val329= | |
| ENST00000639424.1:c.*187C>A | ENSP00000491245.1:n.*187C>A | |
| ENST00000639683.1:c.921C>A | ENSP00000492581.1:p.Val307= | |
| ENST00000639975.1:c.921C>A | ENSP00000492096.1:p.Val307= | |
| ENST00000640500.1:n.285C>A | ||
| ENST00000640574.1:c.702C>A | ENSP00000491582.1:p.Val234= | |
| ENST00000640739.1:n.3518C>A | ||
| ENST00000640910.1:c.425C>A | ||
| ENST00000640985.1:c.900C>A | ENSP00000492293.1:p.Val300= | |
| ENST00000641017.1:c.987C>A | ENSP00000493461.1:p.Val329= | |
| ENST00000356592.7:c.987C>A | ENSP00000349000.3:p.Val329= | |
| ENST00000361925.8:c.987C>A | ENSP00000354651.4:p.Val329= | |
| ENST00000414552.6:c.1107C>A | ENSP00000410732.2:p.Val369= | |
| ENST00000522990.5:c.*589C>A | ENSP00000430732.1:n.*589C>A | |
| ENST00000523372.1:c.1108C>A | ENSP00000430124.1:n.1108C>A | |
| NM_000816.3:c.987C>A | NP_000807.2:p.Val329= | |
| NM_198903.2:c.1107C>A | NP_944493.2:p.Val369= | |
| NM_198904.2:c.987C>A | NP_944494.1:p.Val329= | |
| NM_001375339.1:c.978C>A | NP_001362268.1:p.Val326= | |
| NM_001375340.1:c.923-2558C>A | NP_001362269.1:n.923-2558C>A | |
| NM_001375341.1:c.984C>A | NP_001362270.1:p.Val328= | |
| NM_001375342.1:c.984C>A | NP_001362271.1:p.Val328= | |
| NM_001375343.1:c.1107C>A | NP_001362272.1:p.Val369= | |
| NM_001375344.1:c.1026C>A | NP_001362273.1:p.Val342= | |
| NM_001375345.1:c.921C>A | NP_001362274.1:p.Val307= | |
| NM_001375346.1:c.921C>A | NP_001362275.1:p.Val307= | |
| NM_001375347.1:c.900C>A | NP_001362276.1:p.Val300= | |
| NM_001375348.1:c.567C>A | NP_001362277.1:p.Val189= | |
| NM_001375349.1:c.702C>A | NP_001362278.1:p.Val234= | |
| NM_001375350.1:c.567C>A | NP_001362279.1:p.Val189= | |
| NM_198904.3:c.987C>A | NP_944494.1:p.Val329= | |
| NM_198904.4:c.987C>A MANE Select | NP_944494.1:p.Val329= |