Canonical Allele Identifier:
CA2216888488
Gene:
Linked Data
dbSNP Id:
rs2057282880
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31090825C>T , CM000678.2:g.31090825C>T | GRCh38 |
| NC_000016.9:g.31102146C>T , CM000678.1:g.31102146C>T | GRCh37 |
| NC_000016.8:g.31009647C>T | NCBI36 |
| NG_011564.1:g.9131G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529564.1:c.283+2487G>A | ENSP00000431371.1:n.283+2487G>A | |
| ENST00000532364.1:c.173+3732G>A | ENSP00000460316.1:n.173+3732G>A | |
| ENST00000533518.5:c.407+267G>A |