Linked Data
ClinVar Variation Id:
3021879
ClinVar RCV Id:
RCV003880462
dbSNP Id:
rs1875214490
gnomAD v3:
12-102852795-A-C
gnomAD v4:
12-102852795-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102852795A>C , CM000674.2:g.102852795A>C | GRCh38 |
| NC_000012.11:g.103246573A>C , CM000674.1:g.103246573A>C | GRCh37 |
| NC_000012.10:g.101770703A>C | NCBI36 |
| NG_008690.1:g.69808T>G | |
| NG_008690.2:g.110616T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.842+20T>G MANE Select | ENSP00000448059.1:n.842+20T>G | |
| ENST00000307000.7:c.827+20T>G | ENSP00000303500.2:n.827+20T>G | |
| ENST00000549247.6:n.601+20T>G | ||
| ENST00000553106.5:c.842+20T>G | ENSP00000448059.1:n.842+20T>G | |
| ENST00000635477.1:c.3+20T>G | ||
| NM_000277.1:c.842+20T>G | NP_000268.1:n.842+20T>G | |
| XM_011538422.1:c.842+20T>G | XP_011536724.1:n.842+20T>G | |
| NM_000277.2:c.842+20T>G | NP_000268.1:n.842+20T>G | |
| NM_001354304.1:c.842+20T>G | NP_001341233.1:n.842+20T>G | |
| NM_000277.3:c.842+20T>G MANE Select | NP_000268.1:n.842+20T>G | |
| NM_001354304.2:c.842+20T>G | NP_001341233.1:n.842+20T>G |