Linked Data
ClinVar Variation Id:
48647
ClinVar RCV Id:
RCV000041968
dbSNP Id:
rs387907351
gnomAD v3:
7-2944495-T-C
gnomAD v4:
7-2944495-T-C
PubMed:
PMID:23129749
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.2944495T>C , CM000669.2:g.2944495T>C | GRCh38 |
| NC_000007.13:g.2984129T>C , CM000669.1:g.2984129T>C | GRCh37 |
| NC_000007.12:g.2950655T>C | NCBI36 |
| NG_027759.1:g.104381A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698637.1:n.727A>G | ||
| ENST00000698654.1:n.660A>G | ||
| ENST00000698662.1:n.601A>G | ||
| ENST00000396946.9:c.401A>G MANE Select | ENSP00000380150.4:p.Glu134Gly | |
| ENST00000396946.8:c.401A>G | ENSP00000380150.4:p.Glu134Gly | |
| NM_032415.5:c.401A>G | NP_115791.3:p.Glu134Gly | |
| XM_011515585.1:c.401A>G | XP_011513887.1:p.Glu134Gly | |
| XM_011515586.1:c.401A>G | XP_011513888.1:p.Glu134Gly | |
| XM_011515587.1:c.401A>G | XP_011513889.1:p.Glu134Gly | |
| NM_001324281.1:c.401A>G | NP_001311210.1:p.Glu134Gly | |
| XM_011515586.2:c.401A>G | XP_011513888.1:p.Glu134Gly | |
| XM_011515587.2:c.401A>G | XP_011513889.1:p.Glu134Gly | |
| XR_001744885.1:n.800A>G | ||
| NM_001324281.2:c.401A>G | NP_001311210.1:p.Glu134Gly | |
| NM_032415.6:c.401A>G | NP_115791.3:p.Glu134Gly | |
| NM_001324281.3:c.401A>G | NP_001311210.1:p.Glu134Gly | |
| NM_032415.7:c.401A>G MANE Select | NP_115791.3:p.Glu134Gly |