Linked Data
ClinVar Variation Id:
2041701
ClinVar RCV Id:
RCV002903176
dbSNP Id:
rs894914789
gnomAD v4:
1-160130614-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160130614C>T , CM000663.2:g.160130614C>T | GRCh38 |
| NC_000001.10:g.160100404C>T , CM000663.1:g.160100404C>T | GRCh37 |
| NC_000001.9:g.158367028C>T | NCBI36 |
| NG_008014.1:g.19857C>T , LRG_6:g.19857C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361216.8:c.1827+17C>T MANE Select | ENSP00000354490.3:n.1827+17C>T | |
| ENST00000361216.7:c.1827+17C>T | ENSP00000354490.3:n.1827+17C>T | |
| ENST00000392233.7:c.1827+17C>T | ENSP00000376066.3:n.1827+17C>T | |
| ENST00000447527.1:c.959+17C>T | ||
| ENST00000472488.5:n.1930+17C>T | ||
| NM_000702.3:c.1827+17C>T | NP_000693.1:n.1827+17C>T | |
| NM_000702.4:c.1827+17C>T MANE Select | NP_000693.1:n.1827+17C>T |