Linked Data
ClinVar Variation Id:
419701
ClinVar RCV Id:
RCV001865441
dbSNP Id:
rs1064794053
gnomAD v4:
5-126582975-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126582975C>G , CM000667.2:g.126582975C>G | GRCh38 |
| NC_000005.9:g.125918667C>G , CM000667.1:g.125918667C>G | GRCh37 |
| NC_000005.8:g.125946566C>G | NCBI36 |
| NG_008600.2:g.17416G>C | |
| NG_008600.3:g.17416G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000409134.8:c.394-1G>C MANE Select | ENSP00000387123.3:n.394-1G>C | |
| ENST00000412186.2:c.393+957G>C | ENSP00000414536.2:n.393+957G>C | |
| ENST00000413020.6:c.394-1G>C | ENSP00000487936.1:n.394-1G>C | |
| ENST00000458249.6:c.*303-1G>C | ENSP00000403929.1:n.*303-1G>C | |
| ENST00000479989.6:n.577-1G>C | ||
| ENST00000503281.6:c.107-5764G>C | ||
| ENST00000509270.2:c.328-1G>C | ENSP00000449318.2:n.328-1G>C | |
| ENST00000509459.6:c.66-5764G>C | ||
| ENST00000511266.6:n.1116-1G>C | ||
| ENST00000635851.1:c.392-1G>C | ||
| ENST00000636062.1:n.289-1G>C | ||
| ENST00000636190.1:n.273-1G>C | ||
| ENST00000636225.1:c.*203-1G>C | ENSP00000490797.1:n.*203-1G>C | |
| ENST00000636286.1:n.112-1G>C | ||
| ENST00000636743.1:c.274-1G>C | ENSP00000489725.1:n.274-1G>C | |
| ENST00000636808.1:c.*203-1G>C | ENSP00000490833.1:n.*203-1G>C | |
| ENST00000636872.1:c.554-1G>C | ENSP00000490919.1:n.554-1G>C | |
| ENST00000636879.1:c.394-1G>C | ENSP00000490811.1:n.394-1G>C | |
| ENST00000636886.1:c.193-1G>C | ENSP00000490371.1:n.193-1G>C | |
| ENST00000637070.1:n.8-1G>C | ||
| ENST00000637206.1:c.394-1G>C | ENSP00000489895.1:n.394-1G>C | |
| ENST00000637272.1:c.394-1G>C | ENSP00000489686.1:n.394-1G>C | |
| ENST00000637292.1:c.47-1G>C | ||
| ENST00000637782.1:c.394-1G>C | ENSP00000490024.1:n.394-1G>C | |
| ENST00000637964.1:c.340-1G>C | ENSP00000490291.1:n.340-1G>C | |
| ENST00000638008.1:c.*336-1G>C | ENSP00000490400.1:n.*336-1G>C | |
| ENST00000409134.7:c.394-1G>C | ENSP00000387123.3:n.394-1G>C | |
| ENST00000413020.5:c.394-1G>C | ENSP00000487936.1:n.394-1G>C | |
| ENST00000447989.6:c.475-1G>C | ENSP00000414132.2:n.475-1G>C | |
| ENST00000458249.5:c.554-1G>C | ENSP00000403929.1:n.554-1G>C | |
| ENST00000503281.5:c.107-5764G>C | ||
| ENST00000509270.1:c.274-1G>C | ENSP00000449318.1:n.274-1G>C | |
| ENST00000509459.5:c.66-5764G>C | ||
| ENST00000510111.6:c.307-1G>C | ENSP00000447388.1:n.307-1G>C | |
| ENST00000511266.5:n.348+957G>C | ||
| ENST00000553117.5:c.394-1G>C | ENSP00000448593.1:n.394-1G>C | |
| NM_001182.4:c.394-1G>C | NP_001173.2:n.394-1G>C | |
| NM_001201377.1:c.310-1G>C | NP_001188306.1:n.310-1G>C | |
| NM_001202404.1:c.475-1G>C | NP_001189333.1:n.475-1G>C | |
| XM_011543417.1:c.-12-1G>C | XP_011541719.1:n.-12-1G>C | |
| XM_011543417.2:c.-12-1G>C | XP_011541719.1:n.-12-1G>C | |
| NM_001182.5:c.394-1G>C MANE Select | NP_001173.2:n.394-1G>C | |
| NM_001201377.2:c.310-1G>C | NP_001188306.1:n.310-1G>C | |
| NM_001202404.2:c.394-1G>C | NP_001189333.2:n.394-1G>C |