Linked Data
ClinVar Variation Id:
2103502
ClinVar RCV Id:
RCV003037948
dbSNP Id:
rs777178178
ExAC:
4:100504571 G / A
gnomAD v2:
4-100504571-G-A
gnomAD v3:
4-99583414-G-A
gnomAD v4:
4-99583414-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99583414G>A , CM000666.2:g.99583414G>A | GRCh38 |
| NC_000004.11:g.100504571G>A , CM000666.1:g.100504571G>A | GRCh37 |
| NC_000004.10:g.100723594G>A | NCBI36 |
| NG_011469.1:g.24332G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265517.10:c.290G>A MANE Select | ENSP00000265517.5:p.Gly97Glu | |
| ENST00000457717.6:c.290G>A | ENSP00000400821.1:p.Gly97Glu | |
| ENST00000505094.6:c.41G>A | ENSP00000422782.2:p.Gly14Glu | |
| ENST00000511045.6:c.41G>A | ENSP00000427679.2:p.Gly14Glu | |
| ENST00000265517.9:c.290G>A | ENSP00000265517.5:p.Gly97Glu | |
| ENST00000422897.6:c.290G>A | ENSP00000407350.2:p.Gly97Glu | |
| ENST00000457717.5:c.290G>A | ENSP00000400821.1:p.Gly97Glu | |
| ENST00000505094.5:c.*380G>A | ENSP00000422782.1:n.*380G>A | |
| ENST00000506883.5:c.320G>A | ENSP00000426755.1:p.Gly107Glu | |
| ENST00000511045.5:c.371G>A | ENSP00000427679.1:p.Gly124Glu | |
| ENST00000513404.5:c.*353G>A | ENSP00000424972.1:n.*353G>A | |
| ENST00000515141.5:c.*353G>A | ENSP00000425642.1:n.*353G>A | |
| ENST00000619629.1:c.290G>A | ENSP00000482850.1:p.Gly97Glu | |
| NM_000253.3:c.290G>A | NP_000244.2:p.Gly97Glu | |
| NM_001300785.1:c.371G>A | NP_001287714.1:p.Gly124Glu | |
| NM_000253.4:c.290G>A | NP_000244.2:p.Gly97Glu | |
| NM_001300785.2:c.41G>A | NP_001287714.2:p.Gly14Glu | |
| NM_001386140.1:c.290G>A MANE Select | NP_001373069.1:p.Gly97Glu |