Linked Data
ClinVar Variation Id:
2902594
ClinVar RCV Id:
RCV003756917
dbSNP Id:
rs371730085
ExAC:
1:230796580 C / T
gnomAD v2:
1-230796580-C-T
gnomAD v3:
1-230660834-C-T
gnomAD v4:
1-230660834-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.230660834C>T , CM000663.2:g.230660834C>T | GRCh38 |
| NC_000001.10:g.230796580C>T , CM000663.1:g.230796580C>T | GRCh37 |
| NC_000001.9:g.228863203C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366669.9:c.300+11C>T MANE Select | ENSP00000355629.4:n.300+11C>T | |
| ENST00000366668.7:c.300+11C>T | ENSP00000355628.3:n.300+11C>T | |
| ENST00000366669.8:c.300+11C>T | ENSP00000355629.4:n.300+11C>T | |
| ENST00000468893.6:c.300+11C>T | ENSP00000476305.1:n.300+11C>T | |
| ENST00000473671.1:n.397C>T | ||
| ENST00000494371.5:n.418+11C>T | ||
| ENST00000534989.1:c.123+11C>T | ENSP00000440349.1:n.123+11C>T | |
| NM_001145036.1:c.300+11C>T | NP_001138508.1:n.300+11C>T | |
| NM_007357.2:c.300+11C>T | NP_031383.1:n.300+11C>T | |
| NM_007357.3:c.300+11C>T MANE Select | NP_031383.1:n.300+11C>T | |
| NM_001145036.2:c.300+11C>T | NP_001138508.1:n.300+11C>T |