Linked Data
ClinVar Variation Id:
309556
ClinVar RCV Id:
RCV000384997
dbSNP Id:
rs202104381
ExAC:
12:52908924 G / A
gnomAD v2:
12-52908924-G-A
gnomAD v3:
12-52515140-G-A
gnomAD v4:
12-52515140-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52515140G>A , CM000674.2:g.52515140G>A | GRCh38 |
| NC_000012.11:g.52908924G>A , CM000674.1:g.52908924G>A | GRCh37 |
| NC_000012.10:g.51195191G>A | NCBI36 |
| NG_008297.1:g.10320C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.1575C>T MANE Select | ENSP00000252242.4:p.Ala525= | |
| ENST00000252242.8:c.1575C>T | ENSP00000252242.4:p.Ala525= | |
| ENST00000549511.5:n.782C>T | ||
| ENST00000552952.1:n.500C>T | ||
| NM_000424.3:c.1575C>T | NP_000415.2:p.Ala525= | |
| NM_000424.4:c.1575C>T MANE Select | NP_000415.2:p.Ala525= |