Linked Data
ClinVar Variation Id:
383699
ClinVar RCV Id:
RCV000419982
dbSNP Id:
rs782129771
ExAC:
X:62857974 G / A
gnomAD v2:
X-62857974-G-A
gnomAD v4:
X-63638094-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.63638094G>A , CM000685.2:g.63638094G>A | GRCh38 |
| NC_000023.10:g.62857974G>A , CM000685.1:g.62857974G>A | GRCh37 |
| NC_000023.9:g.62774699G>A | NCBI36 |
| NG_016975.1:g.152453C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000624538.2:c.1422C>T | ENSP00000485282.2:p.Thr474= | |
| ENST00000635729.1:c.1524C>T | ENSP00000490940.1:p.Thr508= | |
| ENST00000635967.1:c.1422C>T | ENSP00000490691.1:p.Thr474= | |
| ENST00000636048.1:c.1422C>T | ENSP00000490063.1:p.Thr474= | |
| ENST00000636102.1:c.*1363C>T | ENSP00000490693.1:n.*1363C>T | |
| ENST00000636392.1:c.1422C>T | ENSP00000489853.1:p.Thr474= | |
| ENST00000637040.1:c.1299C>T | ENSP00000490459.1:p.Thr433= | |
| ENST00000637178.1:c.1422C>T | ENSP00000489862.1:p.Thr474= | |
| ENST00000637417.1:c.1422C>T | ENSP00000490269.1:p.Thr474= | |
| ENST00000637520.1:c.1422C>T | ENSP00000490123.1:p.Thr474= | |
| ENST00000637557.1:c.1422C>T | ENSP00000490679.1:p.Thr474= | |
| ENST00000637723.2:c.1422C>T | ENSP00000489637.2:p.Thr474= | |
| ENST00000638021.1:c.1422C>T | ENSP00000490410.1:p.Thr474= | |
| ENST00000639092.1:c.*1383C>T | ENSP00000492318.1:n.*1383C>T | |
| ENST00000671741.2:c.1506C>T MANE Select | ENSP00000500715.1:p.Thr502= | |
| ENST00000671907.1:c.1485C>T | ENSP00000500829.1:p.Thr495= | |
| ENST00000672194.1:c.1404C>T | ENSP00000499905.1:p.Thr468= | |
| ENST00000672513.1:c.1290C>T | ENSP00000500825.1:p.Thr430= | |
| ENST00000253401.10:c.1485C>T | ENSP00000253401.6:p.Thr495= | |
| ENST00000374870.8:c.1485C>T | ENSP00000364004.5:p.Thr495= | |
| ENST00000374872.4:c.1422C>T | ENSP00000364006.1:p.Thr474= | |
| ENST00000374878.5:c.1375-2686C>T | ENSP00000364012.2:n.1375-2686C>T | |
| ENST00000437457.6:c.*164C>T | ENSP00000399994.3:n.*164C>T | |
| ENST00000466925.4:c.418C>T | ||
| ENST00000495564.5:c.*1210C>T | ENSP00000485633.1:n.*1210C>T | |
| ENST00000498761.5:n.403C>T | ||
| ENST00000623517.3:c.1326C>T | ENSP00000485369.1:p.Thr442= | |
| ENST00000624210.3:c.1422C>T | ENSP00000485144.1:p.Thr474= | |
| ENST00000624783.3:n.515C>T | ||
| ENST00000624843.3:c.1179C>T | ENSP00000485626.1:p.Thr393= | |
| NM_001173479.1:c.1326C>T | NP_001166950.1:p.Thr442= | |
| NM_001173480.1:c.1179C>T | NP_001166951.1:p.Thr393= | |
| NM_015185.2:c.1485C>T | NP_056000.1:p.Thr495= | |
| XM_005262249.1:c.1506C>T | XP_005262306.1:p.Thr502= | |
| XM_005262250.3:c.1422C>T | XP_005262307.1:p.Thr474= | |
| XM_005262251.1:c.1422C>T | XP_005262308.1:p.Thr474= | |
| XM_005262252.1:c.1422C>T | XP_005262309.1:p.Thr474= | |
| XM_011530890.1:c.1485C>T | XP_011529192.1:p.Thr495= | |
| XM_011530891.1:c.1290C>T | XP_011529193.1:p.Thr430= | |
| XM_011530892.1:c.1305C>T | XP_011529194.1:p.Thr435= | |
| NM_001330495.1:c.1422C>T | NP_001317424.1:p.Thr474= | |
| NM_001353921.1:c.1506C>T | NP_001340850.1:p.Thr502= | |
| NM_001353922.1:c.1374C>T | NP_001340851.1:p.Thr458= | |
| NM_001353923.1:c.1524C>T | NP_001340852.1:p.Thr508= | |
| NM_001353924.1:c.1305C>T | NP_001340853.1:p.Thr435= | |
| NM_001353926.1:c.1305C>T | NP_001340855.1:p.Thr435= | |
| NM_001353927.1:c.1290C>T | NP_001340856.1:p.Thr430= | |
| NM_001353928.1:c.1353C>T | NP_001340857.1:p.Thr451= | |
| XM_005262250.4:c.1422C>T | XP_005262307.1:p.Thr474= | |
| XM_017029364.1:c.1500C>T | XP_016884853.1:p.Thr500= | |
| XM_017029366.1:c.1485C>T | XP_016884855.1:p.Thr495= | |
| XM_017029367.1:c.1422C>T | XP_016884856.1:p.Thr474= | |
| XM_017029368.2:c.1422C>T | XP_016884857.1:p.Thr474= | |
| XM_017029372.1:c.1290C>T | XP_016884861.1:p.Thr430= | |
| XM_017029373.2:c.1179C>T | XP_016884862.1:p.Thr393= | |
| XM_017029374.2:c.1173C>T | XP_016884863.1:p.Thr391= | |
| XM_017029377.2:c.*143C>T | XP_016884866.1:n.*143C>T | |
| XM_017029379.1:c.*143C>T | XP_016884868.1:n.*143C>T | |
| XM_017029380.2:c.*143C>T | XP_016884869.1:n.*143C>T | |
| XM_024452356.1:c.1479C>T | XP_024308124.1:p.Thr493= | |
| XM_024452357.1:c.1422C>T | XP_024308125.1:p.Thr474= | |
| XM_024452358.1:c.*143C>T | XP_024308126.1:n.*143C>T | |
| NM_001173479.2:c.1326C>T | NP_001166950.1:p.Thr442= | |
| NM_001173480.2:c.1179C>T | NP_001166951.1:p.Thr393= | |
| NM_001330495.2:c.1422C>T | NP_001317424.1:p.Thr474= | |
| NM_001353921.2:c.1506C>T MANE Select | NP_001340850.1:p.Thr502= | |
| NM_001353922.2:c.1374C>T | NP_001340851.1:p.Thr458= | |
| NM_001353924.2:c.1305C>T | NP_001340853.1:p.Thr435= | |
| NM_001353926.2:c.1305C>T | NP_001340855.1:p.Thr435= | |
| NM_001353927.2:c.1290C>T | NP_001340856.1:p.Thr430= | |
| NM_001353928.2:c.1353C>T | NP_001340857.1:p.Thr451= | |
| NM_001369030.1:c.1485C>T | NP_001355959.1:p.Thr495= | |
| NM_001369031.1:c.1485C>T | NP_001355960.1:p.Thr495= | |
| NM_001369032.1:c.1485C>T | NP_001355961.1:p.Thr495= | |
| NM_001369033.1:c.1422C>T | NP_001355962.1:p.Thr474= | |
| NM_001369034.1:c.1422C>T | NP_001355963.1:p.Thr474= | |
| NM_001369035.1:c.1422C>T | NP_001355964.1:p.Thr474= | |
| NM_001369036.1:c.1422C>T | NP_001355965.1:p.Thr474= | |
| NM_001369037.1:c.1422C>T | NP_001355966.1:p.Thr474= | |
| NM_001369038.1:c.1422C>T | NP_001355967.1:p.Thr474= | |
| NM_001369039.1:c.1305C>T | NP_001355968.1:p.Thr435= | |
| NM_001369040.1:c.1305C>T | NP_001355969.1:p.Thr435= | |
| NM_001369041.1:c.1290C>T | NP_001355970.1:p.Thr430= | |
| NM_001369042.1:c.1179C>T | NP_001355971.1:p.Thr393= | |
| NM_001369043.1:c.*143C>T | NP_001355972.1:n.*143C>T | |
| NM_001369044.1:c.*143C>T | NP_001355973.1:n.*143C>T | |
| NM_001369045.1:c.939C>T | NP_001355974.1:p.Thr313= | |
| NM_015185.3:c.1485C>T | NP_056000.1:p.Thr495= |