Linked Data
ClinVar Variation Id:
1302022
ClinVar RCV Id:
RCV001733890
dbSNP Id:
rs763608512
ExAC:
12:52913609 C / T
gnomAD v2:
12-52913609-C-T
gnomAD v4:
12-52519825-C-T
COSMIC:
COSM1322429
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52519825C>T , CM000674.2:g.52519825C>T | GRCh38 |
| NC_000012.11:g.52913609C>T , CM000674.1:g.52913609C>T | GRCh37 |
| NC_000012.10:g.51199876C>T | NCBI36 |
| NG_008297.1:g.5635G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.472G>A MANE Select | ENSP00000252242.4:p.Asp158Asn | |
| ENST00000252242.8:c.472G>A | ENSP00000252242.4:p.Asp158Asn | |
| ENST00000549420.1:c.142G>A | ENSP00000447209.1:p.Asp48Asn | |
| ENST00000551275.1:c.367G>A | ENSP00000448041.1:p.Asp123Asn | |
| ENST00000552629.5:n.570G>A | ||
| NM_000424.3:c.472G>A | NP_000415.2:p.Asp158Asn | |
| NM_000424.4:c.472G>A MANE Select | NP_000415.2:p.Asp158Asn |