Linked Data
ClinVar Variation Id:
1531242
ClinVar RCV Id:
RCV002099604
dbSNP Id:
rs201218974
ExAC:
12:121177082 C / A
gnomAD v2:
12-121177082-C-A
gnomAD v3:
12-120739279-C-A
gnomAD v4:
12-120739279-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120739279C>A , CM000674.2:g.120739279C>A | GRCh38 |
| NC_000012.11:g.121177082C>A , CM000674.1:g.121177082C>A | GRCh37 |
| NC_000012.10:g.119661465C>A | NCBI36 |
| NG_007991.1:g.18512C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242592.9:c.1087-17C>A MANE Select | ENSP00000242592.4:n.1087-17C>A | |
| ENST00000242592.8:c.1087-17C>A | ENSP00000242592.4:n.1087-17C>A | |
| ENST00000411593.2:c.1075-17C>A | ENSP00000401045.2:n.1075-17C>A | |
| NM_000017.3:c.1087-17C>A | NP_000008.1:n.1087-17C>A | |
| NM_001302554.1:c.1075-17C>A | NP_001289483.1:n.1075-17C>A | |
| NM_000017.4:c.1087-17C>A MANE Select | NP_000008.1:n.1087-17C>A | |
| NM_001302554.2:c.1075-17C>A | NP_001289483.1:n.1075-17C>A |