Linked Data
ClinVar Variation Id:
489280
ClinVar RCV Id:
RCV000578880
dbSNP Id:
rs757715341
ExAC:
1:160390196 C / G
gnomAD v4:
1-160420406-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160420406C>G , CM000663.2:g.160420406C>G | GRCh38 |
| NC_000001.10:g.160390196C>G , CM000663.1:g.160390196C>G | GRCh37 |
| NC_000001.9:g.158656820C>G | NCBI36 |
| NG_023420.1:g.24833C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696602.1:c.945-5C>G | ENSP00000512747.1:n.945-5C>G | |
| ENST00000368061.3:c.801-5C>G MANE Select | ENSP00000357040.2:n.801-5C>G | |
| ENST00000368061.2:c.801-5C>G | ENSP00000357040.2:n.801-5C>G | |
| ENST00000483408.1:n.118-646C>G | ||
| NM_020335.2:c.801-5C>G | NP_065068.1:n.801-5C>G | |
| XM_005245357.1:c.801-5C>G | XP_005245414.1:n.801-5C>G | |
| XM_011509804.1:c.801-5C>G | XP_011508106.1:n.801-5C>G | |
| NM_020335.3:c.801-5C>G MANE Select | NP_065068.1:n.801-5C>G |