Canonical Allele Identifier:
CA11959940
Gene:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.5407701T>G , CM000667.2:g.5407701T>G | GRCh38 |
| NC_000005.9:g.5407814T>G , CM000667.1:g.5407814T>G | GRCh37 |
| NC_000005.8:g.5460814T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_241729.3:n.811+13050A>C | ||
| XR_925722.1:n.811+13050A>C | ||
| XR_925723.1:n.811+13050A>C | ||
| XR_925725.1:n.812-1414A>C | ||
| XR_001742582.2:n.1072+13050A>C | ||
| XR_001742583.2:n.1079+13050A>C | ||
| XR_001742584.2:n.1072+13050A>C | ||
| XR_001742585.2:n.1070+13050A>C | ||
| XR_001742586.2:n.1079+13050A>C | ||
| XR_001742587.2:n.1070+13050A>C | ||
| XR_241729.5:n.1069+13050A>C | ||
| XR_925722.3:n.1070+13050A>C | ||
| XR_925725.3:n.1071-1414A>C |