Linked Data
ClinVar Variation Id:
281163
dbSNP Id:
rs147398904
ExAC:
11:117282575 C / T
gnomAD v2:
11-117282575-C-T
gnomAD v3:
11-117411859-C-T
gnomAD v4:
11-117411859-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.117411859C>T , CM000673.2:g.117411859C>T | GRCh38 |
| NC_000011.9:g.117282575C>T , CM000673.1:g.117282575C>T | GRCh37 |
| NC_000011.8:g.116787785C>T | NCBI36 |
| NG_033032.1:g.95082C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278935.8:c.4228C>T MANE Select | ENSP00000278935.3:p.Gln1410Ter | |
| ENST00000278935.7:c.4228C>T | ENSP00000278935.3:p.Gln1410Ter | |
| ENST00000528706.5:n.1081C>T | ||
| ENST00000532187.1:n.653C>T | ||
| ENST00000533433.1:n.748C>T | ||
| ENST00000533675.5:n.4431C>T | ||
| ENST00000533706.5:n.3782C>T | ||
| NM_001271933.1:c.4213C>T | NP_001258862.1:p.Gln1405Ter | |
| NM_014956.4:c.4228C>T | NP_055771.4:p.Gln1410Ter | |
| XM_005271453.1:c.5914C>T | XP_005271510.1:p.Gln1972Ter | |
| XM_005271456.1:c.4228C>T | XP_005271513.1:p.Gln1410Ter | |
| XM_005271457.1:c.4213C>T | XP_005271514.1:p.Gln1405Ter | |
| XM_006718788.1:c.5923C>T | XP_006718851.1:p.Gln1975Ter | |
| XM_006718794.1:c.4150C>T | XP_006718857.1:p.Gln1384Ter | |
| XM_011542670.1:c.5983C>T | XP_011540972.1:p.Gln1995Ter | |
| XM_011542671.1:c.5983C>T | XP_011540973.1:p.Gln1995Ter | |
| XM_011542672.1:c.5983C>T | XP_011540974.1:p.Gln1995Ter | |
| XM_011542673.1:c.5980C>T | XP_011540975.1:p.Gln1994Ter | |
| XM_011542674.1:c.5974C>T | XP_011540976.1:p.Gln1992Ter | |
| XM_011542675.1:c.5959C>T | XP_011540977.1:p.Gln1987Ter | |
| XM_011542676.1:c.5905C>T | XP_011540978.1:p.Gln1969Ter | |
| XM_011542677.1:c.5845C>T | XP_011540979.1:p.Gln1949Ter | |
| XM_011542678.1:c.5845C>T | XP_011540980.1:p.Gln1949Ter | |
| XM_011542679.1:c.5836C>T | XP_011540981.1:p.Gln1946Ter | |
| XM_011542680.1:c.5737C>T | XP_011540982.1:p.Gln1913Ter | |
| XM_011542681.1:c.5626C>T | XP_011540983.1:p.Gln1876Ter | |
| XM_011542682.1:c.4297C>T | XP_011540984.1:p.Gln1433Ter | |
| XM_011542683.1:c.4297C>T | XP_011540985.1:p.Gln1433Ter | |
| XM_011542685.1:c.4219C>T | XP_011540987.1:p.Gln1407Ter | |
| XM_011542686.1:c.4219C>T | XP_011540988.1:p.Gln1407Ter | |
| XM_011542687.1:c.4159C>T | XP_011540989.1:p.Gln1387Ter | |
| XM_011542688.1:c.3958C>T | XP_011540990.1:p.Gln1320Ter | |
| XR_428971.2:n.6289C>T | ||
| XR_947808.1:n.6898C>T | ||
| XR_947810.1:n.6562C>T | ||
| XM_017017364.1:c.5974C>T | XP_016872853.1:p.Gln1992Ter | |
| XM_017017365.1:c.5974C>T | XP_016872854.1:p.Gln1992Ter | |
| XM_017017366.1:c.5974C>T | XP_016872855.1:p.Gln1992Ter | |
| XM_017017367.1:c.5974C>T | XP_016872856.1:p.Gln1992Ter | |
| XM_017017368.1:c.5971C>T | XP_016872857.1:p.Gln1991Ter | |
| XM_017017369.1:c.5950C>T | XP_016872858.1:p.Gln1984Ter | |
| XM_017017370.1:c.5947C>T | XP_016872859.1:p.Gln1983Ter | |
| XM_017017371.1:c.5896C>T | XP_016872860.1:p.Gln1966Ter | |
| XM_017017372.1:c.5836C>T | XP_016872861.1:p.Gln1946Ter | |
| XM_017017373.2:c.5836C>T | XP_016872862.1:p.Gln1946Ter | |
| XM_017017374.1:c.5836C>T | XP_016872863.1:p.Gln1946Ter | |
| XM_017017375.2:c.5836C>T | XP_016872864.1:p.Gln1946Ter | |
| XM_017017376.1:c.5827C>T | XP_016872865.1:p.Gln1943Ter | |
| XM_017017377.2:c.5728C>T | XP_016872866.1:p.Gln1910Ter | |
| XM_017017378.1:c.5617C>T | XP_016872867.1:p.Gln1873Ter | |
| XM_017017379.1:c.4288C>T | XP_016872868.1:p.Gln1430Ter | |
| XM_017017380.1:c.4288C>T | XP_016872869.1:p.Gln1430Ter | |
| XM_017017381.1:c.4210C>T | XP_016872870.1:p.Gln1404Ter | |
| XM_017017382.1:c.4210C>T | XP_016872871.1:p.Gln1404Ter | |
| XM_017017383.1:c.4150C>T | XP_016872872.1:p.Gln1384Ter | |
| XM_017017384.1:c.4150C>T | XP_016872873.1:p.Gln1384Ter | |
| XM_017017385.1:c.3949C>T | XP_016872874.1:p.Gln1317Ter | |
| XM_017017386.1:c.3865C>T | XP_016872875.1:p.Gln1289Ter | |
| XR_001747793.1:n.6759C>T | ||
| XR_001747794.1:n.6889C>T | ||
| XR_002957132.1:n.6622C>T | ||
| XR_002957133.1:n.6562C>T | ||
| XR_428971.3:n.6289C>T | ||
| NM_014956.5:c.4228C>T MANE Select | NP_055771.4:p.Gln1410Ter | |
| NM_001271933.2:c.4213C>T | NP_001258862.1:p.Gln1405Ter |