Linked Data
dbSNP Id:
rs1190574865
gnomAD v2:
13-50842118-C-T
gnomAD v3:
13-50267982-C-T
gnomAD v4:
13-50267982-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.50267982C>T , CM000675.2:g.50267982C>T | GRCh38 |
| NC_000013.10:g.50842118C>T , CM000675.1:g.50842118C>T | GRCh37 |
| NC_000013.9:g.49740119C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461527.6:n.441-6950C>T | ||
| ENST00000463474.6:n.441-70694C>T | ||
| ENST00000467721.5:n.441-122216C>T | ||
| ENST00000468168.5:n.441-122216C>T | ||
| ENST00000468522.5:n.441-147107C>T | ||
| ENST00000473075.2:n.105+19604C>T | ||
| ENST00000475913.5:n.191+81912C>T | ||
| ENST00000476738.5:n.388-147107C>T | ||
| ENST00000483444.5:n.97+43605C>T | ||
| ENST00000484529.5:n.192-6950C>T | ||
| ENST00000485007.5:n.191+81912C>T | ||
| ENST00000486895.5:n.388-122216C>T | ||
| ENST00000490577.5:n.1637+109906C>T | ||
| ENST00000491341.5:n.441-122216C>T | ||
| ENST00000491615.5:n.441-122216C>T | ||
| NR_109974.1:n.443-122216C>T |