Linked Data
ClinVar Variation Id:
309573
ClinVar RCV Id:
RCV000370472
dbSNP Id:
rs769626917
ExAC:
12:52913958 G / A
gnomAD v2:
12-52913958-G-A
gnomAD v3:
12-52520174-G-A
gnomAD v4:
12-52520174-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52520174G>A , CM000674.2:g.52520174G>A | GRCh38 |
| NC_000012.11:g.52913958G>A , CM000674.1:g.52913958G>A | GRCh37 |
| NC_000012.10:g.51200225G>A | NCBI36 |
| NG_008297.1:g.5286C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.123C>T MANE Select | ENSP00000252242.4:p.Gly41= | |
| ENST00000252242.8:c.123C>T | ENSP00000252242.4:p.Gly41= | |
| ENST00000546577.1:c.123C>T | ENSP00000449651.1:p.Gly41= | |
| ENST00000549420.1:c.43+80C>T | ENSP00000447209.1:n.43+80C>T | |
| ENST00000551275.1:c.123C>T | ENSP00000448041.1:p.Gly41= | |
| ENST00000552629.5:n.221C>T | ||
| NM_000424.3:c.123C>T | NP_000415.2:p.Gly41= | |
| NM_000424.4:c.123C>T MANE Select | NP_000415.2:p.Gly41= |