Linked Data
dbSNP Id:
rs373415417
ExAC:
11:66278091 C / T
gnomAD v2:
11-66278091-C-T
gnomAD v3:
11-66510620-C-T
gnomAD v4:
11-66510620-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66510620C>T , CM000673.2:g.66510620C>T | GRCh38 |
| NC_000011.9:g.66278091C>T , CM000673.1:g.66278091C>T | GRCh37 |
| NC_000011.8:g.66034667C>T | NCBI36 |
| NG_009093.1:g.4973C>T | |
| NG_032068.1:g.35212C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318312.11:c.-40C>T | ENSP00000317469.7:n.-40C>T | |
| ENST00000419755.3:c.159-393C>T | ENSP00000398526.3:n.159-393C>T | |
| ENST00000526760.5:c.-40C>T | ENSP00000432140.1:n.-40C>T | |
| ENST00000527251.5:c.-436C>T | ENSP00000434360.1:n.-436C>T | |
| ENST00000533644.5:c.-40C>T | ENSP00000436073.1:n.-40C>T |