Linked Data
ClinVar Variation Id:
2433761
ClinVar RCV Id:
RCV003132659
dbSNP Id:
rs1170758603
gnomAD v3:
1-158612815-A-C
gnomAD v4:
1-158612815-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.158612815A>C , CM000663.2:g.158612815A>C | GRCh38 |
| NC_000001.10:g.158582605A>C , CM000663.1:g.158582605A>C | GRCh37 |
| NC_000001.9:g.156849229A>C | NCBI36 |
| NG_011474.1:g.78902T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643759.2:c.7134+2T>G MANE Select | ENSP00000495214.1:n.7134+2T>G | |
| ENST00000368147.8:c.7134+2T>G | ENSP00000357129.4:n.7134+2T>G | |
| ENST00000481212.5:n.577T>G | ||
| ENST00000498708.1:n.568T>G | ||
| ENST00000614909.4:c.7134+2T>G | ENSP00000482595.1:n.7134+2T>G | |
| NM_003126.2:c.7134+2T>G | NP_003117.2:n.7134+2T>G | |
| XM_011509916.1:c.7134+2T>G | XP_011508218.1:n.7134+2T>G | |
| XM_011509917.1:c.7116+2T>G | XP_011508219.1:n.7116+2T>G | |
| NM_003126.3:c.7134+2T>G | NP_003117.2:n.7134+2T>G | |
| XM_011509916.2:c.7134+2T>G | XP_011508218.1:n.7134+2T>G | |
| XM_011509917.3:c.7116+2T>G | XP_011508219.1:n.7116+2T>G | |
| NM_003126.4:c.7134+2T>G MANE Select | NP_003117.2:n.7134+2T>G |