Linked Data
ClinVar Variation Id:
1547202
ClinVar RCV Id:
RCV002186724
dbSNP Id:
rs1691336380
gnomAD v4:
2-232523760-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232523760C>T , CM000664.2:g.232523760C>T | GRCh38 |
| NC_000002.11:g.233388470C>T , CM000664.1:g.233388470C>T | GRCh37 |
| NC_000002.10:g.233096714C>T | NCBI36 |
| NG_008028.1:g.2549C>T | |
| NG_031969.1:g.8298C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617714.2:c.1013-12C>T MANE Select | ENSP00000479745.1:n.1013-12C>T | |
| ENST00000449534.6:c.1013-9C>T | ENSP00000473410.1:n.1013-9C>T | |
| ENST00000617714.1:c.1013-12C>T | ENSP00000479745.1:n.1013-12C>T | |
| NM_001195129.1:c.1013-12C>T | NP_001182058.1:n.1013-12C>T | |
| NM_001195129.2:c.1013-12C>T MANE Select | NP_001182058.1:n.1013-12C>T | |
| NM_001369848.1:c.1013-9C>T | NP_001356777.1:n.1013-9C>T |