Linked Data
ClinVar Variation Id:
1745753
dbSNP Id:
rs759874984
gnomAD v2:
2-73828401-C-A
gnomAD v3:
2-73601274-C-A
gnomAD v4:
2-73601274-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73601274C>A , CM000664.2:g.73601274C>A | GRCh38 |
| NC_000002.11:g.73828401C>A , CM000664.1:g.73828401C>A | GRCh37 |
| NC_000002.10:g.73681909C>A | NCBI36 |
| NG_011690.1:g.220522C>A , LRG_741:g.220522C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.11571C>A | ENSP00000507671.1:p.Gly3857= | |
| ENST00000682801.1:c.11167-911C>A | ENSP00000507862.1:n.11167-911C>A | |
| ENST00000682859.1:c.11571C>A | ENSP00000508222.1:p.Gly3857= | |
| ENST00000683791.1:c.4657C>A | ||
| ENST00000684460.1:c.8852C>A | ||
| ENST00000684548.1:c.11571C>A | ENSP00000507421.1:p.Gly3857= | |
| ENST00000684590.1:c.6018C>A | ENSP00000507376.1:p.Gly2006= | |
| ENST00000684656.1:c.9036C>A | ||
| ENST00000613296.6:c.11952C>A MANE Select | ENSP00000482968.1:p.Gly3984= | |
| ENST00000651057.1:c.2106C>A | ENSP00000498504.1:p.Gly702= | |
| ENST00000651434.1:c.3308C>A | ||
| ENST00000651750.1:c.1260+393C>A | ||
| ENST00000652487.1:c.3123C>A | ||
| ENST00000464408.3:n.127C>A | ||
| ENST00000484298.5:c.11826C>A | ENSP00000478155.1:p.Gly3942= | |
| ENST00000613296.4:c.11952C>A | ENSP00000482968.1:p.Gly3984= | |
| ENST00000620466.4:n.5755C>A | ||
| NM_015120.4:c.11955C>A , LRG_741t1:c.11955C>A | NP_055935.4:p.Gly3985= | |
| NM_001378454.1:c.11952C>A MANE Select | NP_001365383.1:p.Gly3984= |