Linked Data
ClinVar Variation Id:
1580684
ClinVar RCV Id:
RCV002075782
dbSNP Id:
rs771751866
ExAC:
2:73828574 G / A
gnomAD v2:
2-73828574-G-A
gnomAD v3:
2-73601447-G-A
gnomAD v4:
2-73601447-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73601447G>A , CM000664.2:g.73601447G>A | GRCh38 |
| NC_000002.11:g.73828574G>A , CM000664.1:g.73828574G>A | GRCh37 |
| NC_000002.10:g.73682082G>A | NCBI36 |
| NG_011690.1:g.220695G>A , LRG_741:g.220695G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.11733+11G>A | ENSP00000507671.1:n.11733+11G>A | |
| ENST00000682801.1:c.11167-738G>A | ENSP00000507862.1:n.11167-738G>A | |
| ENST00000682859.1:c.11733+11G>A | ENSP00000508222.1:n.11733+11G>A | |
| ENST00000683791.1:c.4819+11G>A | ||
| ENST00000684460.1:c.9014+11G>A | ||
| ENST00000684548.1:c.11733+11G>A | ENSP00000507421.1:n.11733+11G>A | |
| ENST00000684590.1:c.6180+11G>A | ENSP00000507376.1:n.6180+11G>A | |
| ENST00000684656.1:c.9198+11G>A | ||
| ENST00000613296.6:c.12114+11G>A MANE Select | ENSP00000482968.1:n.12114+11G>A | |
| ENST00000651057.1:c.2268+11G>A | ENSP00000498504.1:n.2268+11G>A | |
| ENST00000651434.1:c.3470+11G>A | ||
| ENST00000651750.1:c.1260+566G>A | ||
| ENST00000652487.1:c.3285+11G>A | ||
| ENST00000464408.3:n.289+11G>A | ||
| ENST00000484298.5:c.11988+11G>A | ENSP00000478155.1:n.11988+11G>A | |
| ENST00000613296.4:c.12114+11G>A | ENSP00000482968.1:n.12114+11G>A | |
| ENST00000620466.4:n.5917+11G>A | ||
| NM_015120.4:c.12117+11G>A , LRG_741t1:c.12117+11G>A | NP_055935.4:n.12117+11G>A | |
| NM_001378454.1:c.12114+11G>A MANE Select | NP_001365383.1:n.12114+11G>A |