Canonical Allele Identifier:
CA262352017
Gene:
Linked Data
dbSNP Id:
rs4902141
gnomAD v2:
14-62968395-T-C
gnomAD v3:
14-62501677-T-C
gnomAD v4:
14-62501677-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.62501677T>C , CM000676.2:g.62501677T>C | GRCh38 |
| NC_000014.8:g.62968395T>C , CM000676.1:g.62968395T>C | GRCh37 |
| NC_000014.7:g.62038148T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_943932.1:n.116-2364T>C | ||
| XR_943932.2:n.103-2364T>C |