Linked Data
dbSNP Id:
rs1645050901
gnomAD v3:
1-11843727-C-T
gnomAD v4:
1-11843727-C-T
MyVariant Identifiers:
chr1:g.11903784C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11843727C>T , CM000663.2:g.11843727C>T | GRCh38 |
| NC_000001.10:g.11903784C>T , CM000663.1:g.11903784C>T | GRCh37 |
| NC_000001.9:g.11826371C>T | NCBI36 |
| NG_008766.1:g.42578C>T | |
| NG_012926.1:g.9057G>A , LRG_751:g.9057G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400892.3:c.*1402-7C>T (CLCN6) | ENSP00000496938.1:n.*1402-7C>T | |
| ENST00000446542.5:n.215C>T (NPPA-AS1) | ||
| NR_037806.1:n.913C>T (NPPA-AS1) |