Linked Data
dbSNP Id:
rs6665683
gnomAD v2:
1-159265128-C-T
gnomAD v3:
1-159295338-C-T
gnomAD v4:
1-159295338-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.159295338C>T , CM000663.2:g.159295338C>T | GRCh38 |
| NC_000001.10:g.159265128C>T , CM000663.1:g.159265128C>T | GRCh37 |
| NC_000001.9:g.157531752C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368115.5:c.-60+5585C>T | ENSP00000357097.1:n.-60+5585C>T | |
| NM_002001.3:c.-60+5585C>T | NP_001992.1:n.-60+5585C>T | |
| NM_002001.4:c.-60+5585C>T | NP_001992.1:n.-60+5585C>T |