Linked Data
ClinVar Variation Id:
223484
ClinVar RCV Id:
RCV000209152
dbSNP Id:
rs869312484
gnomAD v4:
3-142450041-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.142450041A>G , CM000665.2:g.142450041A>G | GRCh38 |
| NC_000003.11:g.142168883A>G , CM000665.1:g.142168883A>G | GRCh37 |
| NC_000003.10:g.143651573A>G | NCBI36 |
| NG_008951.1:g.133786T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350721.9:c.7762-439T>C MANE Select | ENSP00000343741.4:n.7762-439T>C | |
| ENST00000513291.2:n.6032T>C | ||
| ENST00000653893.1:n.2620-439T>C | ||
| ENST00000654170.1:n.2605-439T>C | ||
| ENST00000656114.1:n.2848-439T>C | ||
| ENST00000656590.1:c.6688+425T>C | ||
| ENST00000658083.1:n.2941+425T>C | ||
| ENST00000661310.1:c.7570-439T>C | ENSP00000499589.1:n.7570-439T>C | |
| ENST00000665483.1:n.5302-439T>C | ||
| ENST00000666447.1:n.4265-439T>C | ||
| ENST00000666943.1:n.4494-439T>C | ||
| ENST00000350721.8:c.7762-439T>C | ENSP00000343741.4:n.7762-439T>C | |
| ENST00000504521.5:c.350+425T>C | ENSP00000422553.1:n.350+425T>C | |
| ENST00000513291.1:c.4387T>C | ||
| ENST00000515810.1:c.187+425T>C | ENSP00000421870.1:n.187+425T>C | |
| NM_001184.3:c.7762-439T>C | NP_001175.2:n.7762-439T>C | |
| XM_011512924.1:c.7768-439T>C | XP_011511226.1:n.7768-439T>C | |
| XM_011512925.1:c.7576-439T>C | XP_011511227.1:n.7576-439T>C | |
| XR_924147.1:n.10518+425T>C | ||
| XR_924148.1:n.7993+425T>C | ||
| NM_001354579.1:c.7570-439T>C | NP_001341508.1:n.7570-439T>C | |
| XR_001740179.2:n.7987+425T>C | ||
| XR_924148.2:n.7993+425T>C | ||
| NM_001184.4:c.7762-439T>C MANE Select | NP_001175.2:n.7762-439T>C | |
| NM_001354579.2:c.7570-439T>C | NP_001341508.1:n.7570-439T>C |