Canonical Allele Identifier:
CA12206681
Gene:
Linked Data
dbSNP Id:
rs12110693
gnomAD v2:
6-122158270-G-A
gnomAD v3:
6-121837124-G-A
gnomAD v4:
6-121837124-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.121837124G>A , CM000668.2:g.121837124G>A | GRCh38 |
| NC_000006.11:g.122158270G>A , CM000668.1:g.122158270G>A | GRCh37 |
| NC_000006.10:g.122199969G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_942936.1:n.241-20787G>A | ||
| XR_942937.1:n.240+69509G>A | ||
| XR_942938.1:n.241-20787G>A | ||
| XR_942939.1:n.241-20787G>A | ||
| XR_942940.1:n.241-20787G>A | ||
| XR_942941.1:n.241-20787G>A | ||
| XR_942936.2:n.241-20787G>A | ||
| XR_942937.3:n.240+69509G>A |