Canonical Allele Identifier:
CA15072634
Gene:
Linked Data
dbSNP Id:
rs3101336
gnomAD v2:
1-72751185-T-C
gnomAD v3:
1-72285502-T-C
gnomAD v4:
1-72285502-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.72285502T>C , CM000663.2:g.72285502T>C | GRCh38 |
| NC_000001.10:g.72751185T>C , CM000663.1:g.72751185T>C | GRCh37 |
| NC_000001.9:g.72523773T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_947505.1:n.310+2097T>C | ||
| XR_947506.1:n.310+2097T>C | ||
| XR_947507.1:n.310+2097T>C | ||
| XR_001737670.1:n.414+2097T>C | ||
| XR_001737671.2:n.418+2097T>C | ||
| XR_947505.2:n.414+2097T>C | ||
| XR_947506.2:n.414+2097T>C |