Linked Data
ClinVar Variation Id:
520722
dbSNP Id:
rs747896279
ExAC:
20:61467548 C / T
gnomAD v2:
20-61467548-C-T
gnomAD v3:
20-62836196-C-T
gnomAD v4:
20-62836196-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.62836196C>T , CM000682.2:g.62836196C>T | GRCh38 |
| NC_000020.10:g.61467548C>T , CM000682.1:g.61467548C>T | GRCh37 |
| NC_000020.9:g.60937993C>T | NCBI36 |
| NG_016353.1:g.24135C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649368.1:c.1411C>T MANE Select | ENSP00000496793.1:p.Arg471Ter | |
| ENST00000343916.7:c.1411C>T | ENSP00000341640.3:p.Arg471Ter | |
| ENST00000462700.5:n.221C>T | ||
| ENST00000466192.5:n.1138C>T | ||
| ENST00000469802.5:n.258C>T | ||
| ENST00000472880.1:n.496C>T | ||
| ENST00000490398.5:n.441C>T | ||
| NM_001853.3:c.1411C>T | NP_001844.3:p.Arg471Ter | |
| XM_011528543.1:c.1401+243C>T | XP_011526845.1:n.1401+243C>T | |
| XM_011528544.1:c.1204C>T | XP_011526846.1:p.Arg402Ter | |
| XM_011528545.1:c.1411C>T | XP_011526847.1:p.Arg471Ter | |
| XM_011528546.1:c.1401+243C>T | XP_011526848.1:n.1401+243C>T | |
| XM_011528547.1:c.1402-164C>T | XP_011526849.1:n.1402-164C>T | |
| XR_936499.1:n.1403-199C>T | ||
| NM_001853.4:c.1411C>T MANE Select | NP_001844.3:p.Arg471Ter | |
| XM_017027666.1:c.1402-199C>T | XP_016883155.1:n.1402-199C>T |