Linked Data
ClinVar Variation Id:
1005992
dbSNP Id:
rs770976719
ExAC:
12:22061066 G / A
gnomAD v2:
12-22061066-G-A
gnomAD v3:
12-21908132-G-A
gnomAD v4:
12-21908132-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21908132G>A , CM000674.2:g.21908132G>A | GRCh38 |
| NC_000012.11:g.22061066G>A , CM000674.1:g.22061066G>A | GRCh37 |
| NC_000012.10:g.21952333G>A | NCBI36 |
| NG_012819.1:g.33563C>T , LRG_377:g.33563C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261201.10:c.1400C>T | ENSP00000261201.4:p.Ala467Val | |
| ENST00000682068.1:c.1400C>T | ENSP00000507226.1:p.Ala467Val | |
| ENST00000682789.1:n.1651C>T | ||
| ENST00000682879.1:c.*501C>T | ENSP00000508210.1:n.*501C>T | |
| ENST00000683105.1:c.1400C>T | ENSP00000506801.1:p.Ala467Val | |
| ENST00000683676.1:c.1400C>T | ENSP00000508167.1:p.Ala467Val | |
| ENST00000684084.1:c.1400C>T | ENSP00000507859.1:p.Ala467Val | |
| ENST00000684543.1:n.1745C>T | ||
| ENST00000261200.9:c.1400C>T MANE Select | ENSP00000261200.4:p.Ala467Val | |
| ENST00000261201.9:c.1400C>T | ENSP00000261201.4:p.Ala467Val | |
| ENST00000261200.8:c.1400C>T | ENSP00000261200.4:p.Ala467Val | |
| ENST00000261201.8:c.1400C>T | ENSP00000261201.4:p.Ala467Val | |
| ENST00000544039.5:c.389C>T | ENSP00000440521.1:p.Ala130Val | |
| NM_005691.3:c.1400C>T | NP_005682.2:p.Ala467Val | |
| NM_020297.3:c.1400C>T | NP_064693.2:p.Ala467Val | |
| XM_005253284.2:c.1400C>T | XP_005253341.1:p.Ala467Val | |
| XM_005253286.2:c.1400C>T | XP_005253343.1:p.Ala467Val | |
| XM_005253287.3:c.1400C>T | XP_005253344.1:p.Ala467Val | |
| XM_005253288.2:c.1400C>T | XP_005253345.1:p.Ala467Val | |
| XM_005253289.2:c.1400C>T | XP_005253346.1:p.Ala467Val | |
| XM_005253290.2:c.1400C>T | XP_005253347.1:p.Ala467Val | |
| XM_006719025.2:c.1400C>T | XP_006719088.1:p.Ala467Val | |
| XM_011520545.1:c.1400C>T | XP_011518847.1:p.Ala467Val | |
| XM_005253284.4:c.1400C>T | XP_005253341.1:p.Ala467Val | |
| XM_005253286.4:c.1400C>T | XP_005253343.1:p.Ala467Val | |
| XM_005253287.5:c.1400C>T | XP_005253344.1:p.Ala467Val | |
| XM_005253288.4:c.1400C>T | XP_005253345.1:p.Ala467Val | |
| XM_005253289.4:c.1400C>T | XP_005253346.1:p.Ala467Val | |
| XM_005253290.4:c.1400C>T | XP_005253347.1:p.Ala467Val | |
| XM_006719025.4:c.1400C>T | XP_006719088.1:p.Ala467Val | |
| XM_011520545.3:c.1400C>T | XP_011518847.1:p.Ala467Val | |
| NM_001377273.1:c.1400C>T | NP_001364202.1:p.Ala467Val | |
| NM_001377274.1:c.536C>T | NP_001364203.1:p.Ala179Val | |
| NM_005691.4:c.1400C>T | NP_005682.2:p.Ala467Val | |
| NM_020297.4:c.1400C>T MANE Select | NP_064693.2:p.Ala467Val |