Linked Data
ClinVar Variation Id:
2643029
ClinVar RCV Id:
RCV003390246
dbSNP Id:
rs775727503
ExAC:
12:52912819 C / T
gnomAD v2:
12-52912819-C-T
gnomAD v3:
12-52519035-C-T
gnomAD v4:
12-52519035-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52519035C>T , CM000674.2:g.52519035C>T | GRCh38 |
| NC_000012.11:g.52912819C>T , CM000674.1:g.52912819C>T | GRCh37 |
| NC_000012.10:g.51199086C>T | NCBI36 |
| NG_008297.1:g.6425G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.681G>A MANE Select | ENSP00000252242.4:p.Arg227= | |
| ENST00000252242.8:c.681G>A | ENSP00000252242.4:p.Arg227= | |
| ENST00000549420.1:c.351G>A | ENSP00000447209.1:p.Arg117= | |
| ENST00000551013.1:n.209G>A | ||
| ENST00000551188.5:c.83G>A | ||
| ENST00000552629.5:n.779G>A | ||
| NM_000424.3:c.681G>A | NP_000415.2:p.Arg227= | |
| NM_000424.4:c.681G>A MANE Select | NP_000415.2:p.Arg227= |