Linked Data
ClinVar Variation Id:
258426
dbSNP Id:
rs45476191
ExAC:
20:61455791 C / T
gnomAD v2:
20-61455791-C-T
gnomAD v3:
20-62824439-C-T
gnomAD v4:
20-62824439-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.62824439C>T , CM000682.2:g.62824439C>T | GRCh38 |
| NC_000020.10:g.61455791C>T , CM000682.1:g.61455791C>T | GRCh37 |
| NC_000020.9:g.60926236C>T | NCBI36 |
| NG_016353.1:g.12378C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452372.2:c.409-6C>T | ENSP00000394280.1:n.409-6C>T | |
| ENST00000463487.2:n.25-6C>T | ||
| ENST00000649368.1:c.520-6C>T MANE Select | ENSP00000496793.1:n.520-6C>T | |
| ENST00000343916.7:c.520-6C>T | ENSP00000341640.3:n.520-6C>T | |
| ENST00000452372.1:c.409-6C>T | ENSP00000394280.1:n.409-6C>T | |
| ENST00000463487.1:n.18C>T | ||
| ENST00000477612.5:n.516-6C>T | ||
| ENST00000489045.5:n.566-6C>T | ||
| NM_001853.3:c.520-6C>T | NP_001844.3:n.520-6C>T | |
| XM_011528543.1:c.520-6C>T | XP_011526845.1:n.520-6C>T | |
| XM_011528544.1:c.313-6C>T | XP_011526846.1:n.313-6C>T | |
| XM_011528545.1:c.520-6C>T | XP_011526847.1:n.520-6C>T | |
| XM_011528546.1:c.520-6C>T | XP_011526848.1:n.520-6C>T | |
| XM_011528547.1:c.520-6C>T | XP_011526849.1:n.520-6C>T | |
| XR_936499.1:n.521-6C>T | ||
| NM_001853.4:c.520-6C>T MANE Select | NP_001844.3:n.520-6C>T | |
| XM_017027666.1:c.520-6C>T | XP_016883155.1:n.520-6C>T |