Linked Data
ClinVar Variation Id:
916710
ClinVar RCV Id:
RCV001172503
dbSNP Id:
rs753052003
ExAC:
2:73828541 C / A
gnomAD v2:
2-73828541-C-A
gnomAD v4:
2-73601414-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73601414C>A , CM000664.2:g.73601414C>A | GRCh38 |
| NC_000002.11:g.73828541C>A , CM000664.1:g.73828541C>A | GRCh37 |
| NC_000002.10:g.73682049C>A | NCBI36 |
| NG_011690.1:g.220662C>A , LRG_741:g.220662C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.11711C>A | ENSP00000507671.1:p.Pro3904Gln | |
| ENST00000682801.1:c.11167-771C>A | ENSP00000507862.1:n.11167-771C>A | |
| ENST00000682859.1:c.11711C>A | ENSP00000508222.1:p.Pro3904Gln | |
| ENST00000683791.1:c.4797C>A | ||
| ENST00000684460.1:c.8992C>A | ||
| ENST00000684548.1:c.11711C>A | ENSP00000507421.1:p.Pro3904Gln | |
| ENST00000684590.1:c.6158C>A | ENSP00000507376.1:p.Pro2053Gln | |
| ENST00000684656.1:c.9176C>A | ||
| ENST00000613296.6:c.12092C>A MANE Select | ENSP00000482968.1:p.Pro4031Gln | |
| ENST00000651057.1:c.2246C>A | ENSP00000498504.1:p.Pro749Gln | |
| ENST00000651434.1:c.3448C>A | ||
| ENST00000651750.1:c.1260+533C>A | ||
| ENST00000652487.1:c.3263C>A | ||
| ENST00000464408.3:n.267C>A | ||
| ENST00000484298.5:c.11966C>A | ENSP00000478155.1:p.Pro3989Gln | |
| ENST00000613296.4:c.12092C>A | ENSP00000482968.1:p.Pro4031Gln | |
| ENST00000620466.4:n.5895C>A | ||
| NM_015120.4:c.12095C>A , LRG_741t1:c.12095C>A | NP_055935.4:p.Pro4032Gln | |
| NM_001378454.1:c.12092C>A MANE Select | NP_001365383.1:p.Pro4031Gln |