Linked Data
ClinVar Variation Id:
1575385
ClinVar RCV Id:
RCV002073848
dbSNP Id:
rs772447299
ExAC:
2:219745789 G / A
gnomAD v2:
2-219745789-G-A
gnomAD v3:
2-218881067-G-A
gnomAD v4:
2-218881067-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218881067G>A , CM000664.2:g.218881067G>A | GRCh38 |
| NC_000002.11:g.219745789G>A , CM000664.1:g.219745789G>A | GRCh37 |
| NC_000002.10:g.219454033G>A | NCBI36 |
| NG_012179.1:g.5535G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258411.8:c.72G>A MANE Select | ENSP00000258411.3:p.Val24= | |
| ENST00000258411.7:c.72G>A | ENSP00000258411.3:p.Val24= | |
| NM_025216.2:c.72G>A | NP_079492.2:p.Val24= | |
| XM_011511929.1:c.18-1094G>A | XP_011510231.1:n.18-1094G>A | |
| XM_011511930.1:c.72G>A | XP_011510232.1:p.Val24= | |
| XM_011511929.2:c.18-1094G>A | XP_011510231.1:n.18-1094G>A | |
| NM_025216.3:c.72G>A MANE Select | NP_079492.2:p.Val24= |