Linked Data
ClinVar Variation Id:
2808149
ClinVar RCV Id:
RCV003610089
dbSNP Id:
rs1460839651
gnomAD v2:
2-73828506-C-T
gnomAD v4:
2-73601379-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73601379C>T , CM000664.2:g.73601379C>T | GRCh38 |
| NC_000002.11:g.73828506C>T , CM000664.1:g.73828506C>T | GRCh37 |
| NC_000002.10:g.73682014C>T | NCBI36 |
| NG_011690.1:g.220627C>T , LRG_741:g.220627C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.11676C>T | ENSP00000507671.1:p.Gly3892= | |
| ENST00000682801.1:c.11167-806C>T | ENSP00000507862.1:n.11167-806C>T | |
| ENST00000682859.1:c.11676C>T | ENSP00000508222.1:p.Gly3892= | |
| ENST00000683791.1:c.4762C>T | ||
| ENST00000684460.1:c.8957C>T | ||
| ENST00000684548.1:c.11676C>T | ENSP00000507421.1:p.Gly3892= | |
| ENST00000684590.1:c.6123C>T | ENSP00000507376.1:p.Gly2041= | |
| ENST00000684656.1:c.9141C>T | ||
| ENST00000613296.6:c.12057C>T MANE Select | ENSP00000482968.1:p.Gly4019= | |
| ENST00000651057.1:c.2211C>T | ENSP00000498504.1:p.Gly737= | |
| ENST00000651434.1:c.3413C>T | ||
| ENST00000651750.1:c.1260+498C>T | ||
| ENST00000652487.1:c.3228C>T | ||
| ENST00000464408.3:n.232C>T | ||
| ENST00000484298.5:c.11931C>T | ENSP00000478155.1:p.Gly3977= | |
| ENST00000613296.4:c.12057C>T | ENSP00000482968.1:p.Gly4019= | |
| ENST00000620466.4:n.5860C>T | ||
| NM_015120.4:c.12060C>T , LRG_741t1:c.12060C>T | NP_055935.4:p.Gly4020= | |
| NM_001378454.1:c.12057C>T MANE Select | NP_001365383.1:p.Gly4019= |