Linked Data
ClinVar Variation Id:
1014983
ClinVar RCV Id:
RCV001313792
dbSNP Id:
rs779029779
ExAC:
2:73799860 A / G
gnomAD v2:
2-73799860-A-G
gnomAD v4:
2-73572733-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73572733A>G , CM000664.2:g.73572733A>G | GRCh38 |
| NC_000002.11:g.73799860A>G , CM000664.1:g.73799860A>G | GRCh37 |
| NC_000002.10:g.73653368A>G | NCBI36 |
| NG_011690.1:g.191981A>G , LRG_741:g.191981A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.10475A>G | ENSP00000507671.1:p.Asp3492Gly | |
| ENST00000682801.1:c.10475A>G | ENSP00000507862.1:p.Asp3492Gly | |
| ENST00000682859.1:c.10475A>G | ENSP00000508222.1:p.Asp3492Gly | |
| ENST00000683791.1:c.3561A>G | ||
| ENST00000684460.1:c.7756A>G | ||
| ENST00000684548.1:c.10475A>G | ENSP00000507421.1:p.Asp3492Gly | |
| ENST00000684590.1:c.4922A>G | ENSP00000507376.1:p.Asp1641Gly | |
| ENST00000684656.1:c.7801A>G | ||
| ENST00000613296.6:c.10856A>G MANE Select | ENSP00000482968.1:p.Asp3619Gly | |
| ENST00000651057.1:c.1010A>G | ENSP00000498504.1:p.Asp337Gly | |
| ENST00000651434.1:c.2212A>G | ||
| ENST00000651750.1:c.244A>G | ||
| ENST00000652487.1:c.1953A>G | ||
| ENST00000423048.5:c.4347A>G | ENSP00000399833.1:n.4347A>G | |
| ENST00000484298.5:c.10730A>G | ENSP00000478155.1:p.Asp3577Gly | |
| ENST00000613296.4:c.10856A>G | ENSP00000482968.1:p.Asp3619Gly | |
| ENST00000614410.4:c.10856A>G | ENSP00000479094.1:p.Asp3619Gly | |
| ENST00000620466.4:n.4659A>G | ||
| NM_015120.4:c.10859A>G , LRG_741t1:c.10859A>G | NP_055935.4:p.Asp3620Gly | |
| NM_001378454.1:c.10856A>G MANE Select | NP_001365383.1:p.Asp3619Gly |