Linked Data
ClinVar Variation Id:
287962
dbSNP Id:
rs200322053
ExAC:
21:38878599 C / A
gnomAD v2:
21-38878599-C-A
gnomAD v3:
21-37506296-C-A
gnomAD v4:
21-37506296-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.37506296C>A , CM000683.2:g.37506296C>A | GRCh38 |
| NC_000021.8:g.38878599C>A , CM000683.1:g.38878599C>A | GRCh37 |
| NC_000021.7:g.37800469C>A | NCBI36 |
| NG_009366.1:g.143741C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000338785.8:c.1744C>A | ENSP00000342690.3:p.Pro582Thr | |
| ENST00000398960.7:c.1671+73C>A | ENSP00000381932.2:n.1671+73C>A | |
| ENST00000643624.1:c.1644+73C>A | ENSP00000493627.1:n.1644+73C>A | |
| ENST00000644942.1:c.1671+73C>A | ENSP00000494544.1:n.1671+73C>A | |
| ENST00000645424.1:c.1572C>A | ENSP00000494897.1:p.Cys524Ter | |
| ENST00000646224.1:n.1086+73C>A | ||
| ENST00000646351.1:n.4389+73C>A | ||
| ENST00000646523.1:c.1671+73C>A | ENSP00000495632.1:n.1671+73C>A | |
| ENST00000646548.1:c.1644+73C>A | ENSP00000495908.1:n.1644+73C>A | |
| ENST00000647188.2:c.1644+73C>A MANE Select | ENSP00000494572.1:n.1644+73C>A | |
| ENST00000647425.1:c.1644+73C>A | ENSP00000496748.1:n.1644+73C>A | |
| ENST00000647504.1:c.1557+73C>A | ENSP00000495571.1:n.1557+73C>A | |
| ENST00000338785.7:c.1744C>A | ENSP00000342690.3:p.Pro582Thr | |
| ENST00000339659.8:c.1644+73C>A | ENSP00000340373.3:n.1644+73C>A | |
| ENST00000398956.2:c.1546+707C>A | ENSP00000381929.2:n.1546+707C>A | |
| ENST00000398960.6:c.1671+73C>A | ENSP00000381932.2:n.1671+73C>A | |
| NM_001396.3:c.1671+73C>A | NP_001387.2:n.1671+73C>A | |
| NM_101395.2:c.1744C>A | NP_567824.1:p.Pro582Thr | |
| NM_130436.2:c.1644+73C>A | NP_569120.1:n.1644+73C>A | |
| NM_130438.2:c.1546+707C>A | NP_569122.1:n.1546+707C>A | |
| XM_005260931.3:c.1584+73C>A | XP_005260988.1:n.1584+73C>A | |
| XM_005260933.3:c.987+73C>A | XP_005260990.1:n.987+73C>A | |
| XM_006723976.2:c.1671+73C>A | XP_006724039.1:n.1671+73C>A | |
| XM_006723977.2:c.1671+73C>A | XP_006724040.1:n.1671+73C>A | |
| XM_006723978.2:c.1671+73C>A | XP_006724041.1:n.1671+73C>A | |
| XM_006723979.2:c.1644+73C>A | XP_006724042.1:n.1644+73C>A | |
| XM_011529482.1:c.1692+73C>A | XP_011527784.1:n.1692+73C>A | |
| XM_011529483.1:c.1671+73C>A | XP_011527785.1:n.1671+73C>A | |
| XM_011529484.1:c.1665+73C>A | XP_011527786.1:n.1665+73C>A | |
| XM_011529485.1:c.1557+73C>A | XP_011527787.1:n.1557+73C>A | |
| NM_001347721.1:c.1644+73C>A | NP_001334650.1:n.1644+73C>A | |
| NM_001347722.1:c.1644+73C>A | NP_001334651.1:n.1644+73C>A | |
| NM_001347723.1:c.1557+73C>A | NP_001334652.1:n.1557+73C>A | |
| NM_001396.4:c.1671+73C>A | NP_001387.2:n.1671+73C>A | |
| XM_005260933.5:c.987+73C>A | XP_005260990.1:n.987+73C>A | |
| XM_006723976.3:c.1671+73C>A | XP_006724039.1:n.1671+73C>A | |
| XM_006723977.3:c.1671+73C>A | XP_006724040.1:n.1671+73C>A | |
| XM_006723978.3:c.1671+73C>A | XP_006724041.1:n.1671+73C>A | |
| XM_011529483.2:c.1671+73C>A | XP_011527785.1:n.1671+73C>A | |
| XM_017028284.1:c.1644+73C>A | XP_016883773.1:n.1644+73C>A | |
| XM_017028286.2:c.1584+73C>A | XP_016883775.1:n.1584+73C>A | |
| XM_024452057.1:c.1557+73C>A | XP_024307825.1:n.1557+73C>A | |
| NM_001347721.2:c.1644+73C>A MANE Select | NP_001334650.1:n.1644+73C>A | |
| NM_001347722.2:c.1644+73C>A | NP_001334651.1:n.1644+73C>A | |
| NM_001347723.2:c.1557+73C>A | NP_001334652.1:n.1557+73C>A | |
| NM_001396.5:c.1671+73C>A | NP_001387.2:n.1671+73C>A |