Linked Data
ClinVar Variation Id:
156537
dbSNP Id:
rs587777852
gnomAD v2:
3-142184702-G-C
gnomAD v3:
3-142465860-G-C
gnomAD v4:
3-142465860-G-C
PubMed:
PMID:23144622
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.142465860G>C , CM000665.2:g.142465860G>C | GRCh38 |
| NC_000003.11:g.142184702G>C , CM000665.1:g.142184702G>C | GRCh37 |
| NC_000003.10:g.143667392G>C | NCBI36 |
| NG_008951.1:g.117967C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000350721.9:c.6897+464C>G MANE Select | ENSP00000343741.4:n.6897+464C>G | |
| ENST00000513291.2:n.2081+464C>G | ||
| ENST00000654170.1:n.1740+464C>G | ||
| ENST00000656590.1:c.5687+464C>G | ||
| ENST00000661310.1:c.6705+464C>G | ENSP00000499589.1:n.6705+464C>G | |
| ENST00000665483.1:n.2616C>G | ||
| ENST00000666447.1:n.3400+464C>G | ||
| ENST00000666943.1:n.3629+464C>G | ||
| ENST00000350721.8:c.6897+464C>G | ENSP00000343741.4:n.6897+464C>G | |
| ENST00000513291.1:c.436+464C>G | ||
| NM_001184.3:c.6897+464C>G | NP_001175.2:n.6897+464C>G | |
| XM_011512924.1:c.6903+464C>G | XP_011511226.1:n.6903+464C>G | |
| XM_011512925.1:c.6711+464C>G | XP_011511227.1:n.6711+464C>G | |
| XR_924147.1:n.6992+464C>G | ||
| XR_924148.1:n.6992+464C>G | ||
| NM_001354579.1:c.6705+464C>G | NP_001341508.1:n.6705+464C>G | |
| XR_001740179.2:n.6986+464C>G | ||
| XR_924148.2:n.6992+464C>G | ||
| NM_001184.4:c.6897+464C>G MANE Select | NP_001175.2:n.6897+464C>G | |
| NM_001354579.2:c.6705+464C>G | NP_001341508.1:n.6705+464C>G |