Linked Data
ClinVar Variation Id:
223476
ClinVar RCV Id:
RCV000209407
dbSNP Id:
rs552872123
gnomAD v2:
3-142168652-A-G
gnomAD v3:
3-142449810-A-G
gnomAD v4:
3-142449810-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.142449810A>G , CM000665.2:g.142449810A>G | GRCh38 |
| NC_000003.11:g.142168652A>G , CM000665.1:g.142168652A>G | GRCh37 |
| NC_000003.10:g.143651342A>G | NCBI36 |
| NG_008951.1:g.134017T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350721.9:c.7762-208T>C MANE Select | ENSP00000343741.4:n.7762-208T>C | |
| ENST00000513291.2:n.6263T>C | ||
| ENST00000653893.1:n.2620-208T>C | ||
| ENST00000654170.1:n.2605-208T>C | ||
| ENST00000656114.1:n.2848-208T>C | ||
| ENST00000656590.1:c.6689-208T>C | ||
| ENST00000658083.1:n.2942-208T>C | ||
| ENST00000661310.1:c.7570-208T>C | ENSP00000499589.1:n.7570-208T>C | |
| ENST00000665483.1:n.5302-208T>C | ||
| ENST00000666447.1:n.4265-208T>C | ||
| ENST00000666943.1:n.4494-208T>C | ||
| ENST00000350721.8:c.7762-208T>C | ENSP00000343741.4:n.7762-208T>C | |
| ENST00000504521.5:c.351-208T>C | ENSP00000422553.1:n.351-208T>C | |
| ENST00000513291.1:c.4618T>C | ||
| ENST00000515810.1:c.188-208T>C | ENSP00000421870.1:n.188-208T>C | |
| NM_001184.3:c.7762-208T>C | NP_001175.2:n.7762-208T>C | |
| XM_011512924.1:c.7768-208T>C | XP_011511226.1:n.7768-208T>C | |
| XM_011512925.1:c.7576-208T>C | XP_011511227.1:n.7576-208T>C | |
| XR_924147.1:n.10519-208T>C | ||
| XR_924148.1:n.7994-208T>C | ||
| NM_001354579.1:c.7570-208T>C | NP_001341508.1:n.7570-208T>C | |
| XR_001740179.2:n.7988-208T>C | ||
| XR_924148.2:n.7994-208T>C | ||
| NM_001184.4:c.7762-208T>C MANE Select | NP_001175.2:n.7762-208T>C | |
| NM_001354579.2:c.7570-208T>C | NP_001341508.1:n.7570-208T>C |