Canonical Allele Identifier:
CA2586634827
Gene:
Linked Data
gnomAD v4:
19-50837278-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50837278T>C , CM000681.2:g.50837278T>C | GRCh38 |
| NC_000019.9:g.51340534T>C , CM000681.1:g.51340534T>C | GRCh37 |
| NC_000019.8:g.56032346T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_131203.1:n.213+5985T>C | ||
| NR_131205.1:n.230+5985T>C | ||
| XR_936030.1:n.298+5985T>C | ||
| XR_936031.1:n.298+5985T>C | ||
| XR_936032.1:n.298+5985T>C | ||
| XR_936033.1:n.294+5985T>C | ||
| XR_936035.1:n.281+5985T>C |