Linked Data
ClinVar Variation Id:
473933
dbSNP Id:
rs375727923
ExAC:
7:2951887 C / G
gnomAD v2:
7-2951887-C-G
gnomAD v3:
7-2912253-C-G
gnomAD v4:
7-2912253-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.2912253C>G , CM000669.2:g.2912253C>G | GRCh38 |
| NC_000007.13:g.2951887C>G , CM000669.1:g.2951887C>G | GRCh37 |
| NC_000007.12:g.2918413C>G | NCBI36 |
| NG_027759.1:g.136623G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698637.1:n.4173G>C | ||
| ENST00000698652.1:n.2019G>C | ||
| ENST00000396946.9:c.3063G>C MANE Select | ENSP00000380150.4:p.Glu1021Asp | |
| ENST00000396946.8:c.3063G>C | ENSP00000380150.4:p.Glu1021Asp | |
| NM_032415.5:c.3063G>C | NP_115791.3:p.Glu1021Asp | |
| XM_011515585.1:c.3063G>C | XP_011513887.1:p.Glu1021Asp | |
| XM_011515586.1:c.3063G>C | XP_011513888.1:p.Glu1021Asp | |
| XM_011515587.1:c.3060G>C | XP_011513889.1:p.Glu1020Asp | |
| NM_001324281.1:c.3063G>C | NP_001311210.1:p.Glu1021Asp | |
| XM_011515586.2:c.3063G>C | XP_011513888.1:p.Glu1021Asp | |
| XM_011515587.2:c.3060G>C | XP_011513889.1:p.Glu1020Asp | |
| NM_001324281.2:c.3063G>C | NP_001311210.1:p.Glu1021Asp | |
| NM_032415.6:c.3063G>C | NP_115791.3:p.Glu1021Asp | |
| NM_001324281.3:c.3063G>C | NP_001311210.1:p.Glu1021Asp | |
| NM_032415.7:c.3063G>C MANE Select | NP_115791.3:p.Glu1021Asp |