Linked Data
ClinVar Variation Id:
852868
ClinVar RCV Id:
RCV001057575
dbSNP Id:
rs1013133526
gnomAD v2:
1-15772093-G-A
gnomAD v3:
1-15445598-G-A
gnomAD v4:
1-15445598-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15445598G>A , CM000663.2:g.15445598G>A | GRCh38 |
| NC_000001.10:g.15772093G>A , CM000663.1:g.15772093G>A | GRCh37 |
| NC_000001.9:g.15644680G>A | NCBI36 |
| NG_009253.1:g.12156G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375949.5:c.641G>A MANE Select | ENSP00000365116.4:p.Gly214Glu | |
| ENST00000375943.6:c.*95G>A | ENSP00000365110.2:n.*95G>A | |
| ENST00000375949.4:c.641G>A | ENSP00000365116.4:p.Gly214Glu | |
| ENST00000483406.1:n.405G>A | ||
| NM_007272.2:c.641G>A | NP_009203.2:p.Gly214Glu | |
| XM_011540550.1:c.495G>A | XP_011538852.1:p.Arg165= | |
| NM_007272.3:c.641G>A MANE Select | NP_009203.2:p.Gly214Glu |