Linked Data
ClinVar Variation Id:
2380463
ClinVar RCV Id:
RCV004218958
dbSNP Id:
rs374459677
ExAC:
2:108994812 G / C
gnomAD v2:
2-108994812-G-C
gnomAD v3:
2-108378356-G-C
gnomAD v4:
2-108378356-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.108378356G>C , CM000664.2:g.108378356G>C | GRCh38 |
| NC_000002.11:g.108994812G>C , CM000664.1:g.108994812G>C | GRCh37 |
| NC_000002.10:g.108361244G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272452.7:c.19G>C MANE Select | ENSP00000272452.2:p.Glu7Gln | |
| ENST00000272452.6:c.19G>C | ENSP00000272452.2:p.Glu7Gln | |
| ENST00000409309.3:c.19G>C | ENSP00000387225.3:p.Glu7Gln | |
| ENST00000494122.1:n.446G>C | ||
| NM_006588.2:c.19G>C | NP_006579.2:p.Glu7Gln | |
| XM_005263919.2:c.19G>C | XP_005263976.1:p.Glu7Gln | |
| NM_001321770.1:c.19G>C | NP_001308699.1:p.Glu7Gln | |
| NM_006588.3:c.19G>C | NP_006579.2:p.Glu7Gln | |
| NR_135776.1:n.446G>C | ||
| NR_135779.1:n.446G>C | ||
| NM_006588.4:c.19G>C MANE Select | NP_006579.2:p.Glu7Gln | |
| NM_001321770.2:c.19G>C | NP_001308699.1:p.Glu7Gln | |
| NR_135776.2:n.403G>C | ||
| NR_135779.2:n.403G>C |