Linked Data
ClinVar Variation Id:
516307
ClinVar RCV Id:
RCV001704774
dbSNP Id:
rs559835122
ExAC:
20:47538402 C / T
gnomAD v2:
20-47538402-C-T
gnomAD v3:
20-48921865-C-T
gnomAD v4:
20-48921865-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.48921865C>T , CM000682.2:g.48921865C>T | GRCh38 |
| NC_000020.10:g.47538402C>T , CM000682.1:g.47538402C>T | GRCh37 |
| NC_000020.9:g.46971809C>T | NCBI36 |
| NG_011490.1:g.5128C>T | |
| NG_011490.2:g.5128C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371917.5:c.-25C>T MANE Select | ENSP00000360985.4:n.-25C>T | |
| ENST00000681399.1:c.-25C>T | ENSP00000506363.1:n.-25C>T | |
| NM_006420.2:c.-25C>T | NP_006411.2:n.-25C>T | |
| XM_005260252.2:c.-25C>T | XP_005260309.1:n.-25C>T | |
| XM_005260252.3:c.-25C>T | XP_005260309.1:n.-25C>T | |
| NM_006420.3:c.-25C>T MANE Select | NP_006411.2:n.-25C>T |