Linked Data
ClinVar Variation Id:
1438267
ClinVar RCV Id:
RCV001948932
dbSNP Id:
rs2148600841
gnomAD v4:
21-37486533-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.37486533G>A , CM000683.2:g.37486533G>A | GRCh38 |
| NC_000021.8:g.38858835G>A , CM000683.1:g.38858835G>A | GRCh37 |
| NC_000021.7:g.37780705G>A | NCBI36 |
| NG_009366.1:g.123977G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338785.8:c.583G>A | ENSP00000342690.3:p.Ala195Thr | |
| ENST00000398960.7:c.583G>A | ENSP00000381932.2:p.Ala195Thr | |
| ENST00000642309.1:c.469G>A | ENSP00000495596.1:p.Ala157Thr | |
| ENST00000643355.1:n.272G>A | ||
| ENST00000643624.1:c.556G>A | ENSP00000493627.1:p.Ala186Thr | |
| ENST00000643808.1:n.386G>A | ||
| ENST00000643854.1:c.469G>A | ENSP00000493653.1:p.Ala157Thr | |
| ENST00000644942.1:c.583G>A | ENSP00000494544.1:p.Ala195Thr | |
| ENST00000645424.1:c.583G>A | ENSP00000494897.1:p.Ala195Thr | |
| ENST00000645774.1:c.604G>A | ENSP00000494536.1:p.Ala202Thr | |
| ENST00000646523.1:c.583G>A | ENSP00000495632.1:p.Ala195Thr | |
| ENST00000646548.1:c.556G>A | ENSP00000495908.1:p.Ala186Thr | |
| ENST00000647188.2:c.556G>A MANE Select | ENSP00000494572.1:p.Ala186Thr | |
| ENST00000647425.1:c.556G>A | ENSP00000496748.1:p.Ala186Thr | |
| ENST00000647504.1:c.469G>A | ENSP00000495571.1:p.Ala157Thr | |
| ENST00000338785.7:c.583G>A | ENSP00000342690.3:p.Ala195Thr | |
| ENST00000339659.8:c.556G>A | ENSP00000340373.3:p.Ala186Thr | |
| ENST00000398956.2:c.583G>A | ENSP00000381929.2:p.Ala195Thr | |
| ENST00000398960.6:c.583G>A | ENSP00000381932.2:p.Ala195Thr | |
| NM_001396.3:c.583G>A | NP_001387.2:p.Ala195Thr | |
| NM_101395.2:c.583G>A | NP_567824.1:p.Ala195Thr | |
| NM_130436.2:c.556G>A | NP_569120.1:p.Ala186Thr | |
| NM_130438.2:c.583G>A | NP_569122.1:p.Ala195Thr | |
| XM_005260931.3:c.496G>A | XP_005260988.1:p.Ala166Thr | |
| XM_006723976.2:c.583G>A | XP_006724039.1:p.Ala195Thr | |
| XM_006723977.2:c.583G>A | XP_006724040.1:p.Ala195Thr | |
| XM_006723978.2:c.583G>A | XP_006724041.1:p.Ala195Thr | |
| XM_006723979.2:c.556G>A | XP_006724042.1:p.Ala186Thr | |
| XM_011529482.1:c.604G>A | XP_011527784.1:p.Ala202Thr | |
| XM_011529483.1:c.583G>A | XP_011527785.1:p.Ala195Thr | |
| XM_011529484.1:c.577G>A | XP_011527786.1:p.Ala193Thr | |
| XM_011529485.1:c.469G>A | XP_011527787.1:p.Ala157Thr | |
| XR_937703.1:n.706+706C>T | ||
| XR_937704.1:n.617+3019C>T | ||
| NM_001347721.1:c.556G>A | NP_001334650.1:p.Ala186Thr | |
| NM_001347722.1:c.556G>A | NP_001334651.1:p.Ala186Thr | |
| NM_001347723.1:c.469G>A | NP_001334652.1:p.Ala157Thr | |
| NM_001396.4:c.583G>A | NP_001387.2:p.Ala195Thr | |
| XM_006723976.3:c.583G>A | XP_006724039.1:p.Ala195Thr | |
| XM_006723977.3:c.583G>A | XP_006724040.1:p.Ala195Thr | |
| XM_006723978.3:c.583G>A | XP_006724041.1:p.Ala195Thr | |
| XM_011529483.2:c.583G>A | XP_011527785.1:p.Ala195Thr | |
| XM_017028284.1:c.556G>A | XP_016883773.1:p.Ala186Thr | |
| XM_017028286.2:c.496G>A | XP_016883775.1:p.Ala166Thr | |
| XM_024452057.1:c.469G>A | XP_024307825.1:p.Ala157Thr | |
| XR_001755034.1:n.138+3019C>T | ||
| NM_001347721.2:c.556G>A MANE Select | NP_001334650.1:p.Ala186Thr | |
| NM_001347722.2:c.556G>A | NP_001334651.1:p.Ala186Thr | |
| NM_001347723.2:c.469G>A | NP_001334652.1:p.Ala157Thr | |
| NM_001396.5:c.583G>A | NP_001387.2:p.Ala195Thr |