Canonical Allele Identifier:
CA1929213319
Gene:
Linked Data
dbSNP Id:
rs1848182429
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94762505G>A , CM000672.2:g.94762505G>A | GRCh38 |
| NC_000010.10:g.96522262G>A , CM000672.1:g.96522262G>A | GRCh37 |
| NC_000010.9:g.96512252G>A | NCBI36 |
| NG_008384.2:g.4800G>A | |
| NG_008384.3:g.4825G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000464755.1:c.932-12553G>A | ENSP00000483243.1:n.932-12553G>A |