Linked Data
ClinVar Variation Id:
1902560
ClinVar RCV Id:
RCV002572826
dbSNP Id:
rs199692405
gnomAD v3:
7-2947624-T-C
gnomAD v4:
7-2947624-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.2947624T>C , CM000669.2:g.2947624T>C | GRCh38 |
| NC_000007.13:g.2987258T>C , CM000669.1:g.2987258T>C | GRCh37 |
| NC_000007.12:g.2953784T>C | NCBI36 |
| NG_027759.1:g.101252A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698637.1:n.497A>G | ||
| ENST00000698654.1:n.396A>G | ||
| ENST00000698662.1:n.371A>G | ||
| ENST00000396946.9:c.171A>G MANE Select | ENSP00000380150.4:p.Glu57= | |
| ENST00000356408.3:c.171A>G | ENSP00000348779.3:p.Glu57= | |
| ENST00000396946.8:c.171A>G | ENSP00000380150.4:p.Glu57= | |
| NM_032415.5:c.171A>G | NP_115791.3:p.Glu57= | |
| XM_011515585.1:c.171A>G | XP_011513887.1:p.Glu57= | |
| XM_011515586.1:c.171A>G | XP_011513888.1:p.Glu57= | |
| XM_011515587.1:c.171A>G | XP_011513889.1:p.Glu57= | |
| NM_001324281.1:c.171A>G | NP_001311210.1:p.Glu57= | |
| XM_011515586.2:c.171A>G | XP_011513888.1:p.Glu57= | |
| XM_011515587.2:c.171A>G | XP_011513889.1:p.Glu57= | |
| XR_001744885.1:n.570A>G | ||
| NM_001324281.2:c.171A>G | NP_001311210.1:p.Glu57= | |
| NM_032415.6:c.171A>G | NP_115791.3:p.Glu57= | |
| NM_001324281.3:c.171A>G | NP_001311210.1:p.Glu57= | |
| NM_032415.7:c.171A>G MANE Select | NP_115791.3:p.Glu57= |