Linked Data
ClinVar Variation Id:
291730
ClinVar RCV Id:
RCV000367571
dbSNP Id:
rs577981181
gnomAD v2:
1-11072703-C-T
gnomAD v3:
1-11012646-C-T
gnomAD v4:
1-11012646-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11012646C>T , CM000663.2:g.11012646C>T | GRCh38 |
| NC_000001.10:g.11072703C>T , CM000663.1:g.11072703C>T | GRCh37 |
| NC_000001.9:g.10995290C>T | NCBI36 |
| NG_008734.1:g.5025C>T , LRG_659:g.5025C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000639083.1:c.-13+166C>T | ENSP00000491203.1:n.-13+166C>T | |
| ENST00000639599.1:c.-13+40C>T | ENSP00000492196.1:n.-13+40C>T | |
| ENST00000240185.7:c.-110C>T | ENSP00000240185.3:n.-110C>T | |
| ENST00000473118.5:c.-13+218C>T | ENSP00000465240.1:n.-13+218C>T | |
| ENST00000629725.2:c.-110C>T | ENSP00000486989.1:n.-110C>T | |
| NM_007375.3:c.-110C>T , LRG_659t1:c.-110C>T | NP_031401.1:n.-110C>T | |
| XR_946596.1:n.13C>T | ||
| XR_946597.1:n.13C>T |