Linked Data
ClinVar Variation Id:
95423
dbSNP Id:
rs61735841
ExAC:
21:47558552 G / A
gnomAD v2:
21-47558552-G-A
gnomAD v3:
21-46138638-G-A
gnomAD v4:
21-46138638-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46138638G>A , CM000683.2:g.46138638G>A | GRCh38 |
| NC_000021.8:g.47558552G>A , CM000683.1:g.47558552G>A | GRCh37 |
| NC_000021.7:g.46382980G>A | NCBI36 |
| NG_016191.1:g.21930C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460011.6:c.-152C>T | ENSP00000507070.1:n.-152C>T | |
| ENST00000494498.2:c.47C>T | ENSP00000507847.1:p.Ala16Val | |
| ENST00000397746.8:c.1313C>T MANE Select | ENSP00000380854.3:p.Ala438Val | |
| ENST00000291670.9:c.1313C>T | ENSP00000291670.5:p.Ala438Val | |
| ENST00000397743.1:c.1269C>T | ENSP00000380851.1:p.Gly423= | |
| ENST00000397746.7:c.1313C>T | ENSP00000380854.3:p.Ala438Val | |
| ENST00000397748.5:c.1313C>T | ENSP00000380856.1:p.Ala438Val | |
| ENST00000460011.5:n.642C>T | ||
| ENST00000488577.1:n.339C>T | ||
| ENST00000494498.1:n.614C>T | ||
| ENST00000498355.6:n.1382C>T | ||
| NM_006657.2:c.1313C>T | NP_006648.1:p.Ala438Val | |
| NM_206965.1:c.1313C>T | NP_996848.1:p.Ala438Val | |
| XM_006723961.2:c.1562C>T | XP_006724024.2:p.Ala521Val | |
| XM_006723962.2:c.1562C>T | XP_006724025.2:p.Ala521Val | |
| XM_011529434.1:c.1562C>T | XP_011527736.1:p.Ala521Val | |
| XM_011529435.1:c.1433C>T | XP_011527737.1:p.Ala478Val | |
| XM_011529436.1:c.1562C>T | XP_011527738.1:p.Ala521Val | |
| XM_011529437.1:c.1562C>T | XP_011527739.1:p.Ala521Val | |
| XM_011529438.1:c.1433C>T | XP_011527740.1:p.Ala478Val | |
| XM_011529439.1:c.1049C>T | XP_011527741.1:p.Ala350Val | |
| XR_937433.1:n.1745C>T | ||
| NM_001320412.1:c.1313C>T | NP_001307341.1:p.Ala438Val | |
| XM_006723961.4:c.1562C>T | XP_006724024.2:p.Ala521Val | |
| XM_006723962.4:c.1562C>T | XP_006724025.2:p.Ala521Val | |
| XM_011529434.3:c.1562C>T | XP_011527736.1:p.Ala521Val | |
| XM_011529435.3:c.1433C>T | XP_011527737.1:p.Ala478Val | |
| XM_011529436.3:c.1562C>T | XP_011527738.1:p.Ala521Val | |
| XM_011529437.3:c.1562C>T | XP_011527739.1:p.Ala521Val | |
| XM_011529439.2:c.1049C>T | XP_011527741.1:p.Ala350Val | |
| XR_937433.3:n.1779C>T | ||
| NM_206965.2:c.1313C>T MANE Select | NP_996848.1:p.Ala438Val | |
| NM_001320412.2:c.1313C>T | NP_001307341.1:p.Ala438Val | |
| NM_006657.3:c.1313C>T | NP_006648.1:p.Ala438Val |