Canonical Allele Identifier:
CA12340192
Gene:
Linked Data
dbSNP Id:
rs1247318
gnomAD v2:
6-161333937-G-C
gnomAD v3:
6-160912905-G-C
gnomAD v4:
6-160912905-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160912905G>C , CM000668.2:g.160912905G>C | GRCh38 |
| NC_000006.11:g.161333937G>C , CM000668.1:g.161333937G>C | GRCh37 |
| NC_000006.10:g.161253927G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000405580.2:n.440-576G>C | ||
| ENST00000405580.1:n.332-576G>C | ||
| XR_943195.1:n.187+2874C>G | ||
| XR_943196.1:n.162+2874C>G |