Linked Data
ClinVar Variation Id:
455977
dbSNP Id:
rs142792291
ExAC:
18:11881006 G / A
gnomAD v2:
18-11881006-G-A
gnomAD v3:
18-11881007-G-A
gnomAD v4:
18-11881007-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.11881007G>A , CM000680.2:g.11881007G>A | GRCh38 |
| NC_000018.9:g.11881006G>A , CM000680.1:g.11881006G>A | GRCh37 |
| NC_000018.8:g.11871006G>A | NCBI36 |
| NG_033866.1:g.196993G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334049.11:c.1249G>A MANE Select | ENSP00000334051.5:p.Gly417Ser | |
| ENST00000423027.8:c.1018G>A MANE Plus Clinical | ENSP00000408489.2:p.Gly340Ser | |
| ENST00000269162.9:c.1018G>A | ENSP00000269162.4:p.Gly340Ser | |
| ENST00000334049.10:c.1249G>A | ENSP00000334051.5:p.Gly417Ser | |
| ENST00000423027.7:c.1018G>A | ENSP00000408489.2:p.Gly340Ser | |
| ENST00000535121.5:c.1018G>A | ENSP00000439023.1:p.Gly340Ser | |
| ENST00000602628.1:c.397G>A | ENSP00000473600.1:p.Gly133Ser | |
| NM_001142339.2:c.1018G>A | NP_001135811.1:p.Gly340Ser | |
| NM_001261443.1:c.1018G>A | NP_001248372.1:p.Gly340Ser | |
| NM_001261444.1:c.397G>A | NP_001248373.1:p.Gly133Ser | |
| NM_182978.3:c.1249G>A | NP_892023.1:p.Gly417Ser | |
| XM_006722323.2:c.1018G>A | XP_006722386.1:p.Gly340Ser | |
| XM_011525654.1:c.1018G>A | XP_011523956.1:p.Gly340Ser | |
| XM_024451164.1:c.1018G>A | XP_024306932.1:p.Gly340Ser | |
| NM_182978.4:c.1249G>A MANE Select | NP_892023.1:p.Gly417Ser | |
| NM_001261444.2:c.397G>A | NP_001248373.1:p.Gly133Ser | |
| NM_001369387.1:c.1018G>A MANE Plus Clinical | NP_001356316.1:p.Gly340Ser | |
| NM_001142339.3:c.1018G>A | NP_001135811.1:p.Gly340Ser | |
| NM_001261443.2:c.1018G>A | NP_001248372.1:p.Gly340Ser |