Linked Data
ClinVar Variation Id:
2767511
ClinVar RCV Id:
RCV003594503
dbSNP Id:
rs143524008
ExAC:
9:130578202 T / C
gnomAD v2:
9-130578202-T-C
gnomAD v3:
9-127815923-T-C
gnomAD v4:
9-127815923-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127815923T>C , CM000671.2:g.127815923T>C | GRCh38 |
| NC_000009.11:g.130578202T>C , CM000671.1:g.130578202T>C | GRCh37 |
| NC_000009.10:g.129618023T>C | NCBI36 |
| NG_009551.1:g.43846A>G , LRG_589:g.43846A>G | |
| NG_023245.1:g.18049T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480266.6:c.1306+20A>G | ENSP00000479015.1:n.1306+20A>G | |
| ENST00000373203.9:c.1852+20A>G MANE Select | ENSP00000362299.4:n.1852+20A>G | |
| ENST00000344849.4:c.1872A>G | ENSP00000341917.3:p.Pro624= | |
| ENST00000373203.8:c.1852+20A>G | ENSP00000362299.4:n.1852+20A>G | |
| ENST00000480266.5:c.1306+20A>G | ENSP00000479015.1:n.1306+20A>G | |
| NM_000118.3:c.1872A>G , LRG_589t1:c.1872A>G | NP_000109.1:p.Pro624= | |
| NM_001114753.2:c.1852+20A>G , LRG_589t2:c.1852+20A>G | NP_001108225.1:n.1852+20A>G | |
| NM_001278138.1:c.1306+20A>G | NP_001265067.1:n.1306+20A>G | |
| NM_001114753.3:c.1852+20A>G MANE Select | NP_001108225.1:n.1852+20A>G | |
| NM_001278138.2:c.1306+20A>G | NP_001265067.1:n.1306+20A>G |