Linked Data
ClinVar Variation Id:
369027
ClinVar RCV Id:
RCV001643127
dbSNP Id:
rs1800200
ExAC:
12:6976688 A / G
gnomAD v2:
12-6976688-A-G
gnomAD v3:
12-6867524-A-G
gnomAD v4:
12-6867524-A-G
PubMed:
PMID:8571957
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6867524A>G , CM000674.2:g.6867524A>G | GRCh38 |
| NC_000012.11:g.6976688A>G , CM000674.1:g.6976688A>G | GRCh37 |
| NC_000012.10:g.6846949A>G | NCBI36 |
| NG_011948.1:g.5105A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000229270.8:c.69A>G | ENSP00000229270.4:p.Arg23= | |
| ENST00000613953.4:c.69A>G | ENSP00000484435.1:p.Arg23= | |
| NM_001159287.1:c.69A>G | NP_001152759.1:p.Arg23= | |
| XR_002957378.1:n.691A>G |