Linked Data
dbSNP Id:
rs1042031721
gnomAD v2:
14-54290989-C-T
gnomAD v3:
14-53824271-C-T
gnomAD v4:
14-53824271-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.53824271C>T , CM000676.2:g.53824271C>T | GRCh38 |
| NC_000014.8:g.54290989C>T , CM000676.1:g.54290989C>T | GRCh37 |
| NC_000014.7:g.53360739C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_943872.1:n.392+25451G>A | ||
| XR_943873.1:n.299+25544G>A | ||
| XR_943874.1:n.392+25451G>A | ||
| XR_943875.1:n.392+25451G>A | ||
| XR_943878.1:n.330-50233C>T | ||
| XR_001750967.2:n.416+25451G>A | ||
| XR_001750968.1:n.324+25544G>A | ||
| XR_943872.3:n.415+25451G>A | ||
| XR_943873.2:n.322+25544G>A | ||
| XR_943874.3:n.419+25451G>A |