Linked Data
ClinVar Variation Id:
1664288
ClinVar RCV Id:
RCV002181704
dbSNP Id:
rs753752452
ExAC:
21:45753130 G / A
gnomAD v2:
21-45753130-G-A
gnomAD v4:
21-44333247-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44333247G>A , CM000683.2:g.44333247G>A | GRCh38 |
| NC_000021.8:g.45753130G>A , CM000683.1:g.45753130G>A | GRCh37 |
| NC_000021.7:g.44577558G>A | NCBI36 |
| NG_032952.1:g.11156C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339818.9:c.159C>T MANE Select | ENSP00000344566.4:p.Ser53= | |
| ENST00000325223.7:c.159C>T | ENSP00000317302.7:p.Ser53= | |
| ENST00000339818.8:c.159C>T | ENSP00000344566.4:p.Ser53= | |
| ENST00000397956.7:c.159C>T | ENSP00000381047.3:p.Ser53= | |
| ENST00000462742.1:n.2330C>T | ||
| ENST00000478674.1:n.218C>T | ||
| ENST00000496321.5:n.275C>T | ||
| NM_001271440.1:c.159C>T | NP_001258369.1:p.Ser53= | |
| NM_001271441.1:c.159C>T | NP_001258370.1:p.Ser53= | |
| NM_001271442.1:c.36C>T | NP_001258371.1:p.Ser12= | |
| NM_004928.2:c.159C>T | NP_004919.1:p.Ser53= | |
| XM_006724051.2:c.234C>T | XP_006724114.1:p.Ser78= | |
| XM_006724052.2:c.234C>T | XP_006724115.1:p.Ser78= | |
| XM_006724053.2:c.-166C>T | XP_006724116.1:n.-166C>T | |
| XR_937571.1:n.362C>T | ||
| XM_006724051.3:c.234C>T | XP_006724114.1:p.Ser78= | |
| XM_006724053.3:c.-166C>T | XP_006724116.1:n.-166C>T | |
| XM_017028470.1:c.363C>T | XP_016883959.1:p.Ser121= | |
| XM_017028471.1:c.108C>T | XP_016883960.1:p.Ser36= | |
| XM_017028472.1:c.-166C>T | XP_016883961.1:n.-166C>T | |
| XR_937571.2:n.369C>T | ||
| NM_004928.3:c.159C>T MANE Select | NP_004919.1:p.Ser53= | |
| NM_001271440.2:c.159C>T | NP_001258369.1:p.Ser53= | |
| NM_001271441.2:c.159C>T | NP_001258370.1:p.Ser53= |