Linked Data
ClinVar Variation Id:
544600
dbSNP Id:
rs760063063
ExAC:
3:52426708 C / G
gnomAD v2:
3-52426708-C-G
gnomAD v3:
3-52392692-C-G
gnomAD v4:
3-52392692-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52392692C>G , CM000665.2:g.52392692C>G | GRCh38 |
| NC_000003.11:g.52426708C>G , CM000665.1:g.52426708C>G | GRCh37 |
| NC_000003.10:g.52401748C>G | NCBI36 |
| NG_052911.1:g.81374C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420323.7:c.10278+3C>G MANE Select | ENSP00000401514.2:n.10278+3C>G | |
| ENST00000420323.6:c.10278+3C>G | ENSP00000401514.2:n.10278+3C>G | |
| ENST00000486752.5:n.10735+3C>G | ||
| ENST00000488988.5:n.2064+3C>G | ||
| ENST00000490713.5:c.978+3C>G | ENSP00000419071.1:n.978+3C>G | |
| NM_015512.4:c.10278+3C>G | NP_056327.4:n.10278+3C>G | |
| XM_011533577.1:c.10347+3C>G | XP_011531879.1:n.10347+3C>G | |
| XM_017006129.1:c.10347+3C>G | XP_016861618.1:n.10347+3C>G | |
| XM_017006130.1:c.10278+3C>G | XP_016861619.1:n.10278+3C>G | |
| XM_017006131.1:c.10221+3C>G | XP_016861620.1:n.10221+3C>G | |
| XR_001740098.1:n.13496+3C>G | ||
| XR_001740099.1:n.13496+3C>G | ||
| NM_015512.5:c.10278+3C>G MANE Select | NP_056327.4:n.10278+3C>G |