Linked Data
ClinVar Variation Id:
2075937
ClinVar RCV Id:
RCV002968046
dbSNP Id:
rs752072949
ExAC:
12:22065948 T / A
gnomAD v2:
12-22065948-T-A
gnomAD v3:
12-21913014-T-A
gnomAD v4:
12-21913014-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21913014T>A , CM000674.2:g.21913014T>A | GRCh38 |
| NC_000012.11:g.22065948T>A , CM000674.1:g.22065948T>A | GRCh37 |
| NC_000012.10:g.21957215T>A | NCBI36 |
| NG_012819.1:g.28681A>T , LRG_377:g.28681A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261201.10:c.869A>T | ENSP00000261201.4:p.Tyr290Phe | |
| ENST00000682068.1:c.869A>T | ENSP00000507226.1:p.Tyr290Phe | |
| ENST00000682789.1:n.1120A>T | ||
| ENST00000682879.1:c.459A>T | ENSP00000508210.1:p.Val153= | |
| ENST00000683105.1:c.869A>T | ENSP00000506801.1:p.Tyr290Phe | |
| ENST00000683676.1:c.869A>T | ENSP00000508167.1:p.Tyr290Phe | |
| ENST00000684084.1:c.869A>T | ENSP00000507859.1:p.Tyr290Phe | |
| ENST00000684543.1:n.1214A>T | ||
| ENST00000261200.9:c.869A>T MANE Select | ENSP00000261200.4:p.Tyr290Phe | |
| ENST00000261201.9:c.869A>T | ENSP00000261201.4:p.Tyr290Phe | |
| ENST00000261200.8:c.869A>T | ENSP00000261200.4:p.Tyr290Phe | |
| ENST00000261201.8:c.869A>T | ENSP00000261201.4:p.Tyr290Phe | |
| NM_005691.3:c.869A>T | NP_005682.2:p.Tyr290Phe | |
| NM_020297.3:c.869A>T | NP_064693.2:p.Tyr290Phe | |
| XM_005253284.2:c.869A>T | XP_005253341.1:p.Tyr290Phe | |
| XM_005253286.2:c.869A>T | XP_005253343.1:p.Tyr290Phe | |
| XM_005253287.3:c.869A>T | XP_005253344.1:p.Tyr290Phe | |
| XM_005253288.2:c.869A>T | XP_005253345.1:p.Tyr290Phe | |
| XM_005253289.2:c.869A>T | XP_005253346.1:p.Tyr290Phe | |
| XM_005253290.2:c.869A>T | XP_005253347.1:p.Tyr290Phe | |
| XM_006719025.2:c.869A>T | XP_006719088.1:p.Tyr290Phe | |
| XM_011520545.1:c.869A>T | XP_011518847.1:p.Tyr290Phe | |
| XM_005253284.4:c.869A>T | XP_005253341.1:p.Tyr290Phe | |
| XM_005253286.4:c.869A>T | XP_005253343.1:p.Tyr290Phe | |
| XM_005253287.5:c.869A>T | XP_005253344.1:p.Tyr290Phe | |
| XM_005253288.4:c.869A>T | XP_005253345.1:p.Tyr290Phe | |
| XM_005253289.4:c.869A>T | XP_005253346.1:p.Tyr290Phe | |
| XM_005253290.4:c.869A>T | XP_005253347.1:p.Tyr290Phe | |
| XM_006719025.4:c.869A>T | XP_006719088.1:p.Tyr290Phe | |
| XM_011520545.3:c.869A>T | XP_011518847.1:p.Tyr290Phe | |
| NM_001377273.1:c.869A>T | NP_001364202.1:p.Tyr290Phe | |
| NM_001377274.1:c.5A>T | NP_001364203.1:p.Tyr2Phe | |
| NM_005691.4:c.869A>T | NP_005682.2:p.Tyr290Phe | |
| NM_020297.4:c.869A>T MANE Select | NP_064693.2:p.Tyr290Phe |