Linked Data
ClinVar Variation Id:
2094930
ClinVar RCV Id:
RCV003012075
dbSNP Id:
rs781073590
ExAC:
1:115220604 G / T
gnomAD v2:
1-115220604-G-T
COSMIC:
COSM390709
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114677983G>T , CM000663.2:g.114677983G>T | GRCh38 |
| NC_000001.10:g.115220604G>T , CM000663.1:g.115220604G>T | GRCh37 |
| NC_000001.9:g.115022127G>T | NCBI36 |
| NG_008012.1:g.22573C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369538.4:c.1139C>A | ENSP00000358551.4:p.Ala380Glu | |
| ENST00000520113.7:c.1151C>A MANE Select | ENSP00000430075.3:p.Ala384Glu | |
| ENST00000637080.1:c.934C>A | ENSP00000489753.1:n.934C>A | |
| ENST00000639077.1:n.816C>A | ||
| ENST00000369538.3:c.1238C>A | ENSP00000358551.3:p.Ala413Glu | |
| ENST00000520113.6:c.1250C>A | ENSP00000430075.2:p.Ala417Glu | |
| NM_000036.2:c.1250C>A | NP_000027.2:p.Ala417Glu | |
| NM_001172626.1:c.1238C>A | NP_001166097.1:p.Ala413Glu | |
| NM_000036.3:c.1151C>A MANE Select | NP_000027.3:p.Ala384Glu | |
| NM_001172626.2:c.1139C>A | NP_001166097.2:p.Ala380Glu |