Canonical Allele Identifier:
CA10836531
Gene:
Linked Data
dbSNP Id:
rs12140275
gnomAD v2:
1-38633879-A-T
gnomAD v3:
1-38168207-A-T
gnomAD v4:
1-38168207-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.38168207A>T , CM000663.2:g.38168207A>T | GRCh38 |
| NC_000001.10:g.38633879A>T , CM000663.1:g.38633879A>T | GRCh37 |
| NC_000001.9:g.38406466A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_947202.1:n.175+6384A>T | ||
| XR_947203.1:n.62-24798A>T | ||
| XR_947204.1:n.175+6384A>T | ||
| XR_947205.1:n.175+6384A>T | ||
| XR_001737984.1:n.175+6384A>T | ||
| XR_001737985.1:n.62-24798A>T | ||
| XR_001737986.1:n.175+6384A>T | ||
| XR_001737987.1:n.175+6384A>T | ||
| XR_002958294.1:n.175+6384A>T | ||
| XR_947205.2:n.175+6384A>T |