Linked Data
ClinVar Variation Id:
352631
ClinVar RCV Id:
RCV000387019
dbSNP Id:
rs748771306
gnomAD v2:
5-161494789-C-G
gnomAD v3:
5-162067783-C-G
gnomAD v4:
5-162067783-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.162067783C>G , CM000667.2:g.162067783C>G | GRCh38 |
| NC_000005.9:g.161494789C>G , CM000667.1:g.161494789C>G | GRCh37 |
| NC_000005.8:g.161427367C>G | NCBI36 |
| NG_009290.1:g.5142C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000638552.1:c.-179+5874C>G | ENSP00000491763.1:n.-179+5874C>G | |
| ENST00000638660.1:c.-179+5874C>G | ENSP00000492869.1:n.-179+5874C>G | |
| ENST00000638772.1:c.-217C>G | ENSP00000491557.1:n.-217C>G | |
| ENST00000639046.1:c.23-36106C>G | ENSP00000492659.1:n.23-36106C>G | |
| ENST00000639111.2:c.-217C>G | ENSP00000492125.2:n.-217C>G | |
| ENST00000639213.2:c.-217C>G MANE Select | ENSP00000491909.2:n.-217C>G | |
| ENST00000639384.1:c.-217C>G | ENSP00000491240.1:n.-217C>G | |
| ENST00000639424.1:c.-217C>G | ENSP00000491245.1:n.-217C>G | |
| ENST00000639549.1:n.8C>G | ||
| ENST00000639683.1:c.-4+142C>G | ENSP00000492581.1:n.-4+142C>G | |
| ENST00000639975.1:c.-4+142C>G | ENSP00000492096.1:n.-4+142C>G | |
| ENST00000640574.1:c.-179+5874C>G | ENSP00000491582.1:n.-179+5874C>G | |
| ENST00000640757.1:c.114-26045C>G | ENSP00000492329.1:n.114-26045C>G | |
| ENST00000640985.1:c.20+142C>G | ENSP00000492293.1:n.20+142C>G | |
| ENST00000356592.7:c.-217C>G | ENSP00000349000.3:n.-217C>G | |
| ENST00000361925.8:c.-217C>G | ENSP00000354651.4:n.-217C>G | |
| ENST00000414552.6:c.-217C>G | ENSP00000410732.2:n.-217C>G | |
| NM_000816.3:c.-217C>G | NP_000807.2:n.-217C>G | |
| NM_198903.2:c.-217C>G | NP_944493.2:n.-217C>G | |
| NM_198904.2:c.-217C>G | NP_944494.1:n.-217C>G | |
| NM_001375339.1:c.-217C>G | NP_001362268.1:n.-217C>G | |
| NM_001375340.1:c.-217C>G | NP_001362269.1:n.-217C>G | |
| NM_001375341.1:c.-217C>G | NP_001362270.1:n.-217C>G | |
| NM_001375342.1:c.-217C>G | NP_001362271.1:n.-217C>G | |
| NM_001375343.1:c.-217C>G | NP_001362272.1:n.-217C>G | |
| NM_001375344.1:c.-217C>G | NP_001362273.1:n.-217C>G | |
| NM_001375345.1:c.-4+142C>G | NP_001362274.1:n.-4+142C>G | |
| NM_001375346.1:c.-4+142C>G | NP_001362275.1:n.-4+142C>G | |
| NM_001375347.1:c.20+142C>G | NP_001362276.1:n.20+142C>G | |
| NM_001375348.1:c.-575C>G | NP_001362277.1:n.-575C>G | |
| NM_001375349.1:c.-623C>G | NP_001362278.1:n.-623C>G | |
| NM_001375350.1:c.-575C>G | NP_001362279.1:n.-575C>G | |
| NM_198904.3:c.-217C>G | NP_944494.1:n.-217C>G | |
| NM_198904.4:c.-217C>G MANE Select | NP_944494.1:n.-217C>G |