Linked Data
ClinVar Variation Id:
389447
dbSNP Id:
rs1057523431
gnomAD v3:
X-77682381-C-A
gnomAD v4:
X-77682381-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77682381C>A , CM000685.2:g.77682381C>A | GRCh38 |
| NC_000023.10:g.76937873C>A , CM000685.1:g.76937873C>A | GRCh37 |
| NC_000023.9:g.76824529C>A | NCBI36 |
| NG_008838.2:g.108841G>T | |
| NG_008838.3:g.108889G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.2875G>T MANE Select | ENSP00000362441.4:p.Asp959Tyr | |
| ENST00000373344.9:c.2875G>T | ENSP00000362441.4:p.Asp959Tyr | |
| ENST00000395603.7:c.2761G>T | ENSP00000378967.3:p.Asp921Tyr | |
| ENST00000480283.5:c.*2503G>T | ENSP00000480196.1:n.*2503G>T | |
| ENST00000624032.3:c.2788G>T | ENSP00000485253.1:p.Asp930Tyr | |
| ENST00000624166.3:c.2671G>T | ENSP00000485103.1:p.Asp891Tyr | |
| NM_000489.4:c.2875G>T | NP_000480.3:p.Asp959Tyr | |
| NM_138270.3:c.2761G>T | NP_612114.2:p.Asp921Tyr | |
| XM_005262153.3:c.2872G>T | XP_005262210.2:p.Asp958Tyr | |
| XM_005262154.3:c.2788G>T | XP_005262211.2:p.Asp930Tyr | |
| XM_005262155.3:c.2758G>T | XP_005262212.2:p.Asp920Tyr | |
| XM_005262156.3:c.2710G>T | XP_005262213.2:p.Asp904Tyr | |
| XM_005262157.3:c.2671G>T | XP_005262214.2:p.Asp891Tyr | |
| XM_006724666.2:c.2758G>T | XP_006724729.1:p.Asp920Tyr | |
| XM_006724667.2:c.2596G>T | XP_006724730.1:p.Asp866Tyr | |
| XM_006724668.2:c.2875G>T | XP_006724731.1:p.Asp959Tyr | |
| XR_938400.1:n.3143G>T | ||
| NM_000489.5:c.2875G>T | NP_000480.3:p.Asp959Tyr | |
| XM_005262153.5:c.2872G>T | XP_005262210.2:p.Asp958Tyr | |
| XM_005262154.5:c.2788G>T | XP_005262211.2:p.Asp930Tyr | |
| XM_005262155.4:c.2758G>T | XP_005262212.2:p.Asp920Tyr | |
| XM_005262156.4:c.2710G>T | XP_005262213.2:p.Asp904Tyr | |
| XM_005262157.5:c.2671G>T | XP_005262214.2:p.Asp891Tyr | |
| XM_006724666.4:c.2758G>T | XP_006724729.1:p.Asp920Tyr | |
| XM_006724667.3:c.2596G>T | XP_006724730.1:p.Asp866Tyr | |
| XM_006724668.3:c.2875G>T | XP_006724731.1:p.Asp959Tyr | |
| XM_017029601.2:c.2785G>T | XP_016885090.1:p.Asp929Tyr | |
| XM_017029602.1:c.2755G>T | XP_016885091.1:p.Asp919Tyr | |
| XM_017029603.1:c.2707G>T | XP_016885092.1:p.Asp903Tyr | |
| XM_017029604.2:c.2674G>T | XP_016885093.1:p.Asp892Tyr | |
| XM_017029605.1:c.2671G>T | XP_016885094.1:p.Asp891Tyr | |
| XM_017029606.2:c.2644G>T | XP_016885095.1:p.Asp882Tyr | |
| XM_017029607.2:c.2641G>T | XP_016885096.1:p.Asp881Tyr | |
| XM_017029608.2:c.2593G>T | XP_016885097.1:p.Asp865Tyr | |
| XM_017029609.1:c.2557G>T | XP_016885098.1:p.Asp853Tyr | |
| XM_017029610.1:c.2554G>T | XP_016885099.1:p.Asp852Tyr | |
| XM_017029611.1:c.2509G>T | XP_016885100.1:p.Asp837Tyr | |
| XR_001755700.2:n.3100G>T | ||
| NM_138270.4:c.2761G>T | NP_612114.2:p.Asp921Tyr | |
| NM_000489.6:c.2875G>T MANE Select | NP_000480.3:p.Asp959Tyr | |
| NM_138270.5:c.2761G>T | NP_612114.2:p.Asp921Tyr |