Linked Data
ClinVar Variation Id:
377462
dbSNP Id:
rs766528289
ExAC:
5:125896767 A / G
gnomAD v2:
5-125896767-A-G
gnomAD v3:
5-126561075-A-G
gnomAD v4:
5-126561075-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126561075A>G , CM000667.2:g.126561075A>G | GRCh38 |
| NC_000005.9:g.125896767A>G , CM000667.1:g.125896767A>G | GRCh37 |
| NC_000005.8:g.125924666A>G | NCBI36 |
| NG_008600.2:g.39316T>C | |
| NG_008600.3:g.39316T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409134.8:c.913+8T>C MANE Select | ENSP00000387123.3:n.913+8T>C | |
| ENST00000458249.6:c.*822+8T>C | ENSP00000403929.1:n.*822+8T>C | |
| ENST00000497231.7:n.1340+8T>C | ||
| ENST00000503281.6:c.502+8T>C | ||
| ENST00000509459.6:c.461+8T>C | ||
| ENST00000635851.1:c.911+8T>C | ||
| ENST00000636062.1:n.808+8T>C | ||
| ENST00000636225.1:c.*857+8T>C | ENSP00000490797.1:n.*857+8T>C | |
| ENST00000636286.1:n.631+8T>C | ||
| ENST00000636482.1:n.400+8T>C | ||
| ENST00000636743.1:c.793+8T>C | ENSP00000489725.1:n.793+8T>C | |
| ENST00000636808.1:c.*722+8T>C | ENSP00000490833.1:n.*722+8T>C | |
| ENST00000636872.1:c.1073+8T>C | ENSP00000490919.1:n.1073+8T>C | |
| ENST00000636879.1:c.958+8T>C | ENSP00000490811.1:n.958+8T>C | |
| ENST00000636886.1:c.712+8T>C | ENSP00000490371.1:n.712+8T>C | |
| ENST00000637206.1:c.913+8T>C | ENSP00000489895.1:n.913+8T>C | |
| ENST00000637272.1:c.913+8T>C | ENSP00000489686.1:n.913+8T>C | |
| ENST00000637292.1:c.468+8T>C | ||
| ENST00000637782.1:c.913+8T>C | ENSP00000490024.1:n.913+8T>C | |
| ENST00000637964.1:c.859+8T>C | ENSP00000490291.1:n.859+8T>C | |
| ENST00000638008.1:c.*757+8T>C | ENSP00000490400.1:n.*757+8T>C | |
| ENST00000409134.7:c.913+8T>C | ENSP00000387123.3:n.913+8T>C | |
| ENST00000447989.6:c.994+8T>C | ENSP00000414132.2:n.994+8T>C | |
| ENST00000497231.6:n.1123+8T>C | ||
| ENST00000503281.5:c.502+8T>C | ||
| ENST00000509459.5:c.461+8T>C | ||
| ENST00000553117.5:c.913+8T>C | ENSP00000448593.1:n.913+8T>C | |
| NM_001182.4:c.913+8T>C | NP_001173.2:n.913+8T>C | |
| NM_001201377.1:c.829+8T>C | NP_001188306.1:n.829+8T>C | |
| NM_001202404.1:c.994+8T>C | NP_001189333.1:n.994+8T>C | |
| XM_011543417.1:c.508+8T>C | XP_011541719.1:n.508+8T>C | |
| XM_011543417.2:c.508+8T>C | XP_011541719.1:n.508+8T>C | |
| NM_001182.5:c.913+8T>C MANE Select | NP_001173.2:n.913+8T>C | |
| NM_001201377.2:c.829+8T>C | NP_001188306.1:n.829+8T>C | |
| NM_001202404.2:c.913+8T>C | NP_001189333.2:n.913+8T>C |