Linked Data
ClinVar Variation Id:
497137
dbSNP Id:
rs1189784704
gnomAD v2:
16-2134595-C-A
gnomAD v3:
16-2084594-C-A
gnomAD v4:
16-2084594-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2084594C>A , CM000678.2:g.2084594C>A | GRCh38 |
| NC_000016.9:g.2134595C>A , CM000678.1:g.2134595C>A | GRCh37 |
| NC_000016.8:g.2074596C>A | NCBI36 |
| NG_005895.1:g.40289C>A , LRG_487:g.40289C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*2721C>A | ENSP00000455997.2:n.*2721C>A | |
| ENST00000642206.2:c.4219C>A | ENSP00000495146.2:p.Pro1407Thr | |
| ENST00000642365.2:c.4369C>A | ENSP00000495459.2:p.Pro1457Thr | |
| ENST00000644417.2:c.*4752C>A | ENSP00000493912.2:n.*4752C>A | |
| ENST00000646464.2:c.*7121C>A | ENSP00000496610.2:n.*7121C>A | |
| ENST00000219476.9:c.4372C>A MANE Select | ENSP00000219476.3:p.Pro1458Thr | |
| ENST00000350773.9:c.4303C>A | ENSP00000344383.4:p.Pro1435Thr | |
| ENST00000401874.7:c.4171C>A | ENSP00000384468.2:p.Pro1391Thr | |
| ENST00000568454.6:c.4204C>A | ENSP00000454487.1:p.Pro1402Thr | |
| ENST00000569110.2:c.608C>A | ||
| ENST00000569930.2:n.2254C>A | ||
| ENST00000642365.1:c.3026C>A | ||
| ENST00000642561.1:c.4243C>A | ENSP00000495099.1:p.Pro1415Thr | |
| ENST00000642728.1:n.554C>A | ||
| ENST00000642797.1:c.4174C>A | ENSP00000493846.1:p.Pro1392Thr | |
| ENST00000642936.1:c.4240C>A | ENSP00000494514.1:p.Pro1414Thr | |
| ENST00000643088.1:c.4171C>A | ENSP00000494747.1:p.Pro1391Thr | |
| ENST00000643177.1:n.386C>A | ||
| ENST00000643426.1:n.2020C>A | ||
| ENST00000643946.1:c.4303C>A | ENSP00000495927.1:p.Pro1435Thr | |
| ENST00000644043.1:c.4243C>A | ENSP00000496262.1:p.Pro1415Thr | |
| ENST00000644329.1:c.4171C>A | ENSP00000496611.1:p.Pro1391Thr | |
| ENST00000644335.1:c.4174C>A | ENSP00000496317.1:p.Pro1392Thr | |
| ENST00000644399.1:c.4293C>A | ||
| ENST00000645024.1:n.2456C>A | ||
| ENST00000646388.1:c.4372C>A | ENSP00000495921.1:p.Pro1458Thr | |
| ENST00000646634.1:n.3187C>A | ||
| ENST00000646674.1:n.1624C>A | ||
| ENST00000647042.1:n.1595C>A | ||
| ENST00000647180.1:n.1485C>A | ||
| ENST00000219476.7:c.4372C>A | ENSP00000219476.3:p.Pro1458Thr | |
| ENST00000350773.8:c.4303C>A | ENSP00000344383.4:p.Pro1435Thr | |
| ENST00000382538.10:c.4027C>A | ENSP00000371978.6:p.Pro1343Thr | |
| ENST00000401874.6:c.4171C>A | ENSP00000384468.2:p.Pro1391Thr | |
| ENST00000439117.6:c.*3539C>A | ENSP00000406980.2:n.*3539C>A | |
| ENST00000439673.6:c.4063C>A | ENSP00000399232.2:p.Pro1355Thr | |
| ENST00000497886.5:n.2130C>A | ||
| ENST00000568454.5:c.4204C>A | ENSP00000454487.1:p.Pro1402Thr | |
| ENST00000569110.1:c.554C>A | ||
| ENST00000569930.1:n.1487C>A | ||
| NM_000548.3:c.4372C>A , LRG_487t1:c.4372C>A | NP_000539.2:p.Pro1458Thr | |
| NM_001077183.1:c.4171C>A | NP_001070651.1:p.Pro1391Thr | |
| NM_001114382.1:c.4303C>A | NP_001107854.1:p.Pro1435Thr | |
| XM_005255529.3:c.4243C>A | XP_005255586.2:p.Pro1415Thr | |
| XM_005255531.3:c.4174C>A | XP_005255588.2:p.Pro1392Thr | |
| XM_011522636.1:c.4426C>A | XP_011520938.1:p.Pro1476Thr | |
| XM_011522637.1:c.4423C>A | XP_011520939.1:p.Pro1475Thr | |
| XM_011522638.1:c.4315C>A | XP_011520940.1:p.Pro1439Thr | |
| XM_011522639.1:c.4297C>A | XP_011520941.1:p.Pro1433Thr | |
| XM_011522640.1:c.4294C>A | XP_011520942.1:p.Pro1432Thr | |
| XM_011522641.1:c.4063C>A | XP_011520943.1:p.Pro1355Thr | |
| NM_000548.4:c.4372C>A | NP_000539.2:p.Pro1458Thr | |
| NM_001077183.2:c.4171C>A | NP_001070651.1:p.Pro1391Thr | |
| NM_001114382.2:c.4303C>A | NP_001107854.1:p.Pro1435Thr | |
| NM_001318827.1:c.4063C>A | NP_001305756.1:p.Pro1355Thr | |
| NM_001318829.1:c.4027C>A | NP_001305758.1:p.Pro1343Thr | |
| NM_001318831.1:c.3640C>A | NP_001305760.1:p.Pro1214Thr | |
| NM_001318832.1:c.4204C>A | NP_001305761.1:p.Pro1402Thr | |
| NM_001363528.1:c.4174C>A | NP_001350457.1:p.Pro1392Thr | |
| NM_021055.2:c.4243C>A | NP_066399.2:p.Pro1415Thr | |
| XM_005255531.4:c.4174C>A | XP_005255588.2:p.Pro1392Thr | |
| XM_011522636.2:c.4426C>A | XP_011520938.1:p.Pro1476Thr | |
| XM_011522637.2:c.4423C>A | XP_011520939.1:p.Pro1475Thr | |
| XM_011522638.2:c.4588C>A | XP_011520940.2:p.Pro1530Thr | |
| XM_011522639.2:c.4297C>A | XP_011520941.1:p.Pro1433Thr | |
| XM_011522640.2:c.4294C>A | XP_011520942.1:p.Pro1432Thr | |
| XM_017023615.1:c.4369C>A | XP_016879104.1:p.Pro1457Thr | |
| XM_017023616.1:c.4240C>A | XP_016879105.1:p.Pro1414Thr | |
| XM_017023617.1:c.4336C>A | XP_016879106.1:p.Pro1446Thr | |
| XM_017023618.1:c.3082C>A | XP_016879107.1:p.Pro1028Thr | |
| XM_024450413.1:c.4171C>A | XP_024306181.1:p.Pro1391Thr | |
| NM_000548.5:c.4372C>A MANE Select | NP_000539.2:p.Pro1458Thr | |
| NM_001370404.1:c.4240C>A | NP_001357333.1:p.Pro1414Thr | |
| NM_001370405.1:c.4243C>A | NP_001357334.1:p.Pro1415Thr | |
| NM_001077183.3:c.4171C>A | NP_001070651.1:p.Pro1391Thr | |
| NM_001114382.3:c.4303C>A | NP_001107854.1:p.Pro1435Thr | |
| NM_001318827.2:c.4063C>A | NP_001305756.1:p.Pro1355Thr | |
| NM_001318829.2:c.4027C>A | NP_001305758.1:p.Pro1343Thr | |
| NM_001318831.2:c.3640C>A | NP_001305760.1:p.Pro1214Thr | |
| NM_001318832.2:c.4204C>A | NP_001305761.1:p.Pro1402Thr | |
| NM_001363528.2:c.4174C>A | NP_001350457.1:p.Pro1392Thr | |
| NM_021055.3:c.4243C>A | NP_066399.2:p.Pro1415Thr |