Linked Data
ClinVar Variation Id:
924428
dbSNP Id:
rs766314770
ExAC:
1:55509690 G / A
gnomAD v2:
1-55509690-G-A
gnomAD v4:
1-55044017-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55044017G>A , CM000663.2:g.55044017G>A | GRCh38 |
| NC_000001.10:g.55509690G>A , CM000663.1:g.55509690G>A | GRCh37 |
| NC_000001.9:g.55282278G>A | NCBI36 |
| NG_009061.1:g.9471G>A , LRG_275:g.9471G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.382G>A | ENSP00000501161.2:p.Gly128Ser | |
| ENST00000710286.1:c.739G>A | ENSP00000518176.1:p.Gly247Ser | |
| ENST00000673662.1:n.52G>A | ||
| ENST00000673726.1:c.382G>A | ENSP00000501004.1:p.Gly128Ser | |
| ENST00000673903.1:c.7G>A | ENSP00000501257.1:p.Gly3Ser | |
| ENST00000302118.5:c.382G>A MANE Select | ENSP00000303208.5:p.Gly128Ser | |
| NM_174936.3:c.382G>A , LRG_275t1:c.382G>A | NP_777596.2:p.Gly128Ser | |
| NR_110451.1:n.182+3614G>A | ||
| NM_174936.4:c.382G>A MANE Select | NP_777596.2:p.Gly128Ser | |
| NR_110451.2:n.182+3614G>A |