Linked Data
ClinVar Variation Id:
300933
ClinVar RCV Id:
RCV000269856
dbSNP Id:
rs10762733
gnomAD v2:
10-78645453-G-A
gnomAD v3:
10-76885695-G-A
gnomAD v4:
10-76885695-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.76885695G>A , CM000672.2:g.76885695G>A | GRCh38 |
| NC_000010.10:g.78645453G>A , CM000672.1:g.78645453G>A | GRCh37 |
| NC_000010.9:g.78315459G>A | NCBI36 |
| NG_012270.1:g.757125C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000707137.1:c.3229+1596C>T | ||
| ENST00000286627.10:c.*1571C>T | ENSP00000286627.5:n.*1571C>T | |
| ENST00000286628.14:c.*1571C>T MANE Select | ENSP00000286628.8:n.*1571C>T | |
| ENST00000372403.9:c.3399-678C>T | ENSP00000361480.4:n.3399-678C>T | |
| ENST00000372408.7:c.3408-678C>T | ENSP00000361485.3:n.3408-678C>T | |
| ENST00000372421.10:c.3526+1596C>T | ||
| ENST00000372437.6:c.3519-678C>T | ENSP00000361514.2:n.3519-678C>T | |
| ENST00000372440.6:c.3522-678C>T | ENSP00000361517.2:n.3522-678C>T | |
| ENST00000372443.6:c.3605+1596C>T | ENSP00000361520.2:n.3605+1596C>T | |
| ENST00000404771.8:c.3687-678C>T | ENSP00000385717.3:n.3687-678C>T | |
| ENST00000404857.6:c.3404+1596C>T | ENSP00000385806.3:n.3404+1596C>T | |
| ENST00000434208.6:c.3630-1154C>T | ENSP00000402150.2:n.3630-1154C>T | |
| ENST00000457953.6:c.3686+1596C>T | ENSP00000396608.2:n.3686+1596C>T | |
| ENST00000468471.2:n.368+1596C>T | ||
| ENST00000604624.6:c.3107+1596C>T | ENSP00000473714.2:n.3107+1596C>T | |
| ENST00000638203.1:c.3513-678C>T | ENSP00000491123.1:n.3513-678C>T | |
| ENST00000638223.1:c.3614+1596C>T | ENSP00000492492.1:n.3614+1596C>T | |
| ENST00000638252.1:c.3335+1596C>T | ENSP00000492178.1:n.3335+1596C>T | |
| ENST00000638283.1:c.3315-678C>T | ENSP00000491300.1:n.3315-678C>T | |
| ENST00000638306.1:c.3512+1596C>T | ENSP00000491008.1:n.3512+1596C>T | |
| ENST00000638351.1:c.3522-678C>T | ENSP00000491156.1:n.3522-678C>T | |
| ENST00000638512.1:n.341+1596C>T | ||
| ENST00000638606.1:c.3525-678C>T | ENSP00000491981.1:n.3525-678C>T | |
| ENST00000638632.1:n.9471C>T | ||
| ENST00000638751.1:c.4533C>T | ENSP00000492172.1:n.4533C>T | |
| ENST00000638754.1:c.4634C>T | ENSP00000491166.1:n.4634C>T | |
| ENST00000638848.1:c.3698+1596C>T | ENSP00000492414.1:n.3698+1596C>T | |
| ENST00000638895.1:c.3490-678C>T | ||
| ENST00000638991.1:c.3521+1596C>T | ENSP00000490978.1:n.3521+1596C>T | |
| ENST00000639069.1:n.3230-678C>T | ||
| ENST00000639090.1:c.3513-678C>T | ENSP00000491673.1:n.3513-678C>T | |
| ENST00000639205.1:c.3407+1596C>T | ENSP00000492718.1:n.3407+1596C>T | |
| ENST00000639344.1:c.3374-678C>T | ||
| ENST00000639370.1:c.3541-678C>T | ||
| ENST00000639406.1:c.*1571C>T | ENSP00000491732.1:n.*1571C>T | |
| ENST00000639483.1:c.*2208+1596C>T | ENSP00000492406.1:n.*2208+1596C>T | |
| ENST00000639486.1:c.3512+1596C>T | ENSP00000492005.1:n.3512+1596C>T | |
| ENST00000639489.1:c.3524+1596C>T | ENSP00000491927.1:n.3524+1596C>T | |
| ENST00000639498.1:c.3408-678C>T | ENSP00000492835.1:n.3408-678C>T | |
| ENST00000639544.1:c.3686+1596C>T | ENSP00000492075.1:n.3686+1596C>T | |
| ENST00000639591.1:c.3558-678C>T | ENSP00000492793.1:n.3558-678C>T | |
| ENST00000639601.1:c.3512+1596C>T | ENSP00000492806.1:n.3512+1596C>T | |
| ENST00000639657.1:n.3596-678C>T | ||
| ENST00000639691.1:c.2854+1596C>T | ||
| ENST00000639716.1:c.3299C>T | ENSP00000491131.1:n.3299C>T | |
| ENST00000639730.1:c.2879-678C>T | ||
| ENST00000639851.1:n.3736+1596C>T | ||
| ENST00000639913.1:c.3602+1596C>T | ENSP00000492241.1:n.3602+1596C>T | |
| ENST00000639968.1:c.*2531-678C>T | ENSP00000491723.1:n.*2531-678C>T | |
| ENST00000639995.1:c.3168+1596C>T | ENSP00000491902.1:n.3168+1596C>T | |
| ENST00000640029.1:c.3512+1596C>T | ENSP00000491463.1:n.3512+1596C>T | |
| ENST00000640093.1:c.3409+1596C>T | ENSP00000492224.1:n.3409+1596C>T | |
| ENST00000640141.1:c.*1571C>T | ENSP00000491418.1:n.*1571C>T | |
| ENST00000640182.1:c.3525-678C>T | ENSP00000492510.1:n.3525-678C>T | |
| ENST00000640523.1:c.3707+1596C>T | ENSP00000491795.1:n.3707+1596C>T | |
| ENST00000640570.1:n.3216+1596C>T | ||
| ENST00000640605.1:c.3534-678C>T | ENSP00000491435.1:n.3534-678C>T | |
| ENST00000640626.1:c.3165-678C>T | ENSP00000491545.1:n.3165-678C>T | |
| ENST00000640807.1:c.3362+1596C>T | ENSP00000491555.1:n.3362+1596C>T | |
| ENST00000640934.1:c.3503+1596C>T | ENSP00000491539.1:n.3503+1596C>T | |
| ENST00000640969.1:c.*1571C>T | ENSP00000492200.1:n.*1571C>T | |
| ENST00000286627.9:c.*1571C>T | ENSP00000286627.5:n.*1571C>T | |
| ENST00000286628.12:c.5282C>T | ENSP00000286628.8:n.5282C>T | |
| ENST00000354353.9:c.*1571C>T | ENSP00000346321.6:n.*1571C>T | |
| ENST00000372403.8:c.3365-678C>T | ||
| ENST00000372408.6:c.3324-678C>T | ENSP00000361485.2:n.3324-678C>T | |
| ENST00000372421.9:c.3432+1596C>T | ||
| ENST00000372437.5:c.3491+1596C>T | ENSP00000361514.1:n.3491+1596C>T | |
| ENST00000372440.5:c.3512+1596C>T | ENSP00000361517.1:n.3512+1596C>T | |
| ENST00000372443.5:c.3593+1596C>T | ENSP00000361520.1:n.3593+1596C>T | |
| ENST00000404771.7:c.3687-678C>T | ENSP00000385717.3:n.3687-678C>T | |
| ENST00000404857.5:c.3020+1596C>T | ENSP00000385806.2:n.3020+1596C>T | |
| ENST00000406533.7:c.*1571C>T | ENSP00000385552.4:n.*1571C>T | |
| ENST00000434208.5:c.2665-1154C>T | ||
| ENST00000457953.5:c.3608+1596C>T | ENSP00000396608.1:n.3608+1596C>T | |
| ENST00000604624.5:c.3107+1596C>T | ENSP00000473714.1:n.3107+1596C>T | |
| NM_001014797.2:c.3524+1596C>T | NP_001014797.1:n.3524+1596C>T | |
| NM_001161352.1:c.*1571C>T | NP_001154824.1:n.*1571C>T | |
| NM_001161353.1:c.*1571C>T | NP_001154825.1:n.*1571C>T | |
| NM_001271518.1:c.3362+1596C>T | NP_001258447.1:n.3362+1596C>T | |
| NM_001271519.1:c.*1571C>T | NP_001258448.1:n.*1571C>T | |
| NM_002247.3:c.*1571C>T | NP_002238.2:n.*1571C>T | |
| XM_005269776.2:c.3594-678C>T | XP_005269833.1:n.3594-678C>T | |
| XM_005269778.1:c.3698+1596C>T | XP_005269835.1:n.3698+1596C>T | |
| XM_005269781.1:c.3686+1596C>T | XP_005269838.1:n.3686+1596C>T | |
| XM_005269787.2:c.3513-678C>T | XP_005269844.1:n.3513-678C>T | |
| XM_005269789.1:c.3605+1596C>T | XP_005269846.1:n.3605+1596C>T | |
| XM_005269792.1:c.3599+1596C>T | XP_005269849.1:n.3599+1596C>T | |
| XM_005269796.1:c.3512+1596C>T | XP_005269853.1:n.3512+1596C>T | |
| XM_005269797.1:c.3512+1596C>T | XP_005269854.1:n.3512+1596C>T | |
| XM_006717826.1:c.*1571C>T | XP_006717889.1:n.*1571C>T | |
| XM_011539773.1:c.3830+1596C>T | XP_011538075.1:n.3830+1596C>T | |
| XM_011539774.1:c.*1571C>T | XP_011538076.1:n.*1571C>T | |
| XM_011539775.1:c.3818+1596C>T | XP_011538077.1:n.3818+1596C>T | |
| XM_011539776.1:c.3818+1596C>T | XP_011538078.1:n.3818+1596C>T | |
| XM_011539777.1:c.*1571C>T | XP_011538079.1:n.*1571C>T | |
| XM_011539778.1:c.*1571C>T | XP_011538080.1:n.*1571C>T | |
| XM_011539779.1:c.*1571C>T | XP_011538081.1:n.*1571C>T | |
| XM_011539780.1:c.3698+1596C>T | XP_011538082.1:n.3698+1596C>T | |
| XM_011539781.1:c.3656+1596C>T | XP_011538083.1:n.3656+1596C>T | |
| XM_011539782.1:c.*1571C>T | XP_011538084.1:n.*1571C>T | |
| XM_011539783.1:c.*1571C>T | XP_011538085.1:n.*1571C>T | |
| XM_011539785.1:c.3602+1596C>T | XP_011538087.1:n.3602+1596C>T | |
| NM_001322829.1:c.3521+1596C>T | NP_001309758.1:n.3521+1596C>T | |
| NM_001322830.1:c.3614+1596C>T | NP_001309759.1:n.3614+1596C>T | |
| NM_001322832.1:c.3512+1596C>T | NP_001309761.1:n.3512+1596C>T | |
| NM_001322835.1:c.3605+1596C>T | NP_001309764.1:n.3605+1596C>T | |
| NM_001322836.1:c.*1571C>T | NP_001309765.1:n.*1571C>T | |
| NM_001322837.1:c.*1571C>T | NP_001309766.1:n.*1571C>T | |
| NM_001322838.1:c.3059+1596C>T | NP_001309767.1:n.3059+1596C>T | |
| XM_005269776.4:c.3594-678C>T | XP_005269833.1:n.3594-678C>T | |
| XM_005269778.2:c.3698+1596C>T | XP_005269835.1:n.3698+1596C>T | |
| XM_005269781.2:c.3686+1596C>T | XP_005269838.1:n.3686+1596C>T | |
| XM_005269787.4:c.3513-678C>T | XP_005269844.1:n.3513-678C>T | |
| XM_005269789.2:c.3605+1596C>T | XP_005269846.1:n.3605+1596C>T | |
| XM_005269792.2:c.3599+1596C>T | XP_005269849.1:n.3599+1596C>T | |
| XM_005269796.2:c.3512+1596C>T | XP_005269853.1:n.3512+1596C>T | |
| XM_006717826.2:c.*1571C>T | XP_006717889.1:n.*1571C>T | |
| XM_011539773.2:c.3830+1596C>T | XP_011538075.1:n.3830+1596C>T | |
| XM_011539774.2:c.*1571C>T | XP_011538076.1:n.*1571C>T | |
| XM_011539775.2:c.3818+1596C>T | XP_011538077.1:n.3818+1596C>T | |
| XM_011539777.2:c.*1571C>T | XP_011538079.1:n.*1571C>T | |
| XM_011539778.2:c.*1571C>T | XP_011538080.1:n.*1571C>T | |
| XM_011539779.2:c.*1571C>T | XP_011538081.1:n.*1571C>T | |
| XM_011539780.2:c.3698+1596C>T | XP_011538082.1:n.3698+1596C>T | |
| XM_011539781.3:c.3656+1596C>T | XP_011538083.1:n.3656+1596C>T | |
| XM_011539782.2:c.*1571C>T | XP_011538084.1:n.*1571C>T | |
| XM_011539783.2:c.*1571C>T | XP_011538085.1:n.*1571C>T | |
| XM_011539785.2:c.3602+1596C>T | XP_011538087.1:n.3602+1596C>T | |
| XM_017016207.2:c.3911+1596C>T | XP_016871696.1:n.3911+1596C>T | |
| XM_017016208.2:c.3911+1596C>T | XP_016871697.1:n.3911+1596C>T | |
| XM_017016209.2:c.*1571C>T | XP_016871698.1:n.*1571C>T | |
| XM_017016210.2:c.3830+1596C>T | XP_016871699.1:n.3830+1596C>T | |
| XM_017016211.2:c.3743+1596C>T | XP_016871700.1:n.3743+1596C>T | |
| XM_017016212.2:c.3737+1596C>T | XP_016871701.1:n.3737+1596C>T | |
| XM_017016213.2:c.3731+1596C>T | XP_016871702.1:n.3731+1596C>T | |
| XM_017016214.2:c.*1571C>T | XP_016871703.1:n.*1571C>T | |
| XM_017016215.2:c.*1571C>T | XP_016871704.1:n.*1571C>T | |
| XM_017016217.1:c.3644+1596C>T | XP_016871706.1:n.3644+1596C>T | |
| XM_017016218.1:c.*1571C>T | XP_016871707.1:n.*1571C>T | |
| XM_017016222.2:c.3512+1596C>T | XP_016871711.2:n.3512+1596C>T | |
| XM_017016223.1:c.3059+1596C>T | XP_016871712.1:n.3059+1596C>T | |
| XM_024447984.1:c.3686+1596C>T | XP_024303752.1:n.3686+1596C>T | |
| XM_024447985.1:c.3524+1596C>T | XP_024303753.1:n.3524+1596C>T | |
| XM_024447986.1:c.*1571C>T | XP_024303754.1:n.*1571C>T | |
| XM_024447987.1:c.3687-678C>T | XP_024303755.1:n.3687-678C>T | |
| XM_024447988.1:c.3525-678C>T | XP_024303756.1:n.3525-678C>T | |
| XM_024447989.1:c.3525-678C>T | XP_024303757.1:n.3525-678C>T | |
| XM_024447990.1:c.3513-678C>T | XP_024303758.1:n.3513-678C>T | |
| NM_001161352.2:c.*1571C>T MANE Select | NP_001154824.1:n.*1571C>T | |
| NM_001014797.3:c.3524+1596C>T | NP_001014797.1:n.3524+1596C>T | |
| NM_001161353.2:c.*1571C>T | NP_001154825.1:n.*1571C>T | |
| NM_001271518.2:c.3362+1596C>T | NP_001258447.1:n.3362+1596C>T | |
| NM_001271519.2:c.*1571C>T | NP_001258448.1:n.*1571C>T | |
| NM_001322829.2:c.3521+1596C>T | NP_001309758.1:n.3521+1596C>T | |
| NM_001322830.2:c.3614+1596C>T | NP_001309759.1:n.3614+1596C>T | |
| NM_001322832.2:c.3512+1596C>T | NP_001309761.1:n.3512+1596C>T | |
| NM_001322835.2:c.3605+1596C>T | NP_001309764.1:n.3605+1596C>T | |
| NM_001322836.2:c.*1571C>T | NP_001309765.1:n.*1571C>T | |
| NM_001322837.2:c.*1571C>T | NP_001309766.1:n.*1571C>T | |
| NM_002247.4:c.*1571C>T | NP_002238.2:n.*1571C>T | |
| NM_001322838.2:c.3059+1596C>T | NP_001309767.1:n.3059+1596C>T |