Linked Data
ClinVar Variation Id:
2496615
ClinVar RCV Id:
RCV003221218
dbSNP Id:
rs1158115459
gnomAD v2:
3-142188982-G-T
gnomAD v3:
3-142470140-G-T
gnomAD v4:
3-142470140-G-T
COSMIC:
COSM6246395
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.142470140G>T , CM000665.2:g.142470140G>T | GRCh38 |
| NC_000003.11:g.142188982G>T , CM000665.1:g.142188982G>T | GRCh37 |
| NC_000003.10:g.143671672G>T | NCBI36 |
| NG_008951.1:g.113687C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000350721.9:c.6265C>A MANE Select | ENSP00000343741.4:p.Arg2089= | |
| ENST00000513291.2:n.1449C>A | ||
| ENST00000654170.1:n.1108C>A | ||
| ENST00000656590.1:c.5055C>A | ||
| ENST00000661310.1:c.6073C>A | ENSP00000499589.1:p.Arg2025= | |
| ENST00000665483.1:n.120C>A | ||
| ENST00000666447.1:n.100C>A | ||
| ENST00000666943.1:n.1729C>A | ||
| ENST00000350721.8:c.6265C>A | ENSP00000343741.4:p.Arg2089= | |
| NM_001184.3:c.6265C>A | NP_001175.2:p.Arg2089= | |
| XM_011512924.1:c.6271C>A | XP_011511226.1:p.Arg2091= | |
| XM_011512925.1:c.6079C>A | XP_011511227.1:p.Arg2027= | |
| XR_924147.1:n.6360C>A | ||
| XR_924148.1:n.6360C>A | ||
| XR_924149.1:n.6239C>A | ||
| NM_001354579.1:c.6073C>A | NP_001341508.1:p.Arg2025= | |
| XR_001740179.2:n.6354C>A | ||
| XR_001740180.2:n.6408C>A | ||
| XR_001740181.2:n.6287C>A | ||
| XR_001740182.1:n.6239C>A | ||
| XR_002959543.1:n.6464C>A | ||
| XR_924148.2:n.6360C>A | ||
| NM_001184.4:c.6265C>A MANE Select | NP_001175.2:p.Arg2089= | |
| NM_001354579.2:c.6073C>A | NP_001341508.1:p.Arg2025= |