Linked Data
ClinVar Variation Id:
319848
dbSNP Id:
rs886052144
gnomAD v2:
16-56518751-A-G
gnomAD v3:
16-56484839-A-G
gnomAD v4:
16-56484839-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56484839A>G , CM000678.2:g.56484839A>G | GRCh38 |
| NC_000016.9:g.56518751A>G , CM000678.1:g.56518751A>G | GRCh37 |
| NC_000016.8:g.55076252A>G | NCBI36 |
| NG_009312.1:g.40445T>C | |
| NG_009312.2:g.40186T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561877.2:c.2075T>C | ENSP00000454986.2:n.2075T>C | |
| ENST00000562813.2:n.3575T>C | ||
| ENST00000564123.7:n.933T>C | ||
| ENST00000564459.6:n.815T>C | ||
| ENST00000565781.6:n.5619T>C | ||
| ENST00000565859.2:n.3162T>C | ||
| ENST00000566210.2:n.2517T>C | ||
| ENST00000566410.2:n.5602T>C | ||
| ENST00000566452.2:n.3211T>C | ||
| ENST00000568104.6:c.1950T>C | ENSP00000456289.1:p.Thr650= | |
| ENST00000569192.6:n.1193T>C | ||
| ENST00000618027.2:n.867T>C | ||
| ENST00000682000.1:n.1646T>C | ||
| ENST00000682001.1:n.3117T>C | ||
| ENST00000682038.1:c.*1477T>C | ENSP00000508404.1:n.*1477T>C | |
| ENST00000682047.1:c.2088T>C | ENSP00000507699.1:p.Thr696= | |
| ENST00000682088.1:c.*5029T>C | ENSP00000508064.1:n.*5029T>C | |
| ENST00000682096.1:n.4538T>C | ||
| ENST00000682113.1:n.4305T>C | ||
| ENST00000682146.1:n.3245T>C | ||
| ENST00000682187.1:c.*1512T>C | ENSP00000507203.1:n.*1512T>C | |
| ENST00000682188.1:c.2133T>C | ENSP00000507655.1:p.Thr711= | |
| ENST00000682201.1:n.2079T>C | ||
| ENST00000682205.1:c.2088T>C | ENSP00000508377.1:p.Thr696= | |
| ENST00000682348.1:c.*1137T>C | ENSP00000506965.1:n.*1137T>C | |
| ENST00000682360.1:c.1491T>C | ENSP00000508007.1:p.Thr497= | |
| ENST00000682370.1:n.3454T>C | ||
| ENST00000682420.1:n.2635T>C | ||
| ENST00000682429.1:c.*757T>C | ENSP00000506827.1:n.*757T>C | |
| ENST00000682449.1:c.*839T>C | ENSP00000507836.1:n.*839T>C | |
| ENST00000682470.1:c.2088T>C | ENSP00000507654.1:p.Thr696= | |
| ENST00000682473.1:n.2053T>C | ||
| ENST00000682482.1:c.1962T>C | ENSP00000507903.1:p.Thr654= | |
| ENST00000682492.1:n.2176T>C | ||
| ENST00000682493.1:c.*683T>C | ENSP00000506778.1:n.*683T>C | |
| ENST00000682543.1:c.*1512T>C | ENSP00000507592.1:n.*1512T>C | |
| ENST00000682597.1:n.4275T>C | ||
| ENST00000682658.1:c.*1120T>C | ENSP00000507773.1:n.*1120T>C | |
| ENST00000682705.1:n.3157T>C | ||
| ENST00000682723.1:c.*167T>C | ENSP00000507115.1:n.*167T>C | |
| ENST00000682735.1:c.*3756T>C | ENSP00000507007.1:n.*3756T>C | |
| ENST00000682737.1:c.1491T>C | ENSP00000506876.1:p.Thr497= | |
| ENST00000682757.1:n.3781T>C | ||
| ENST00000682855.1:c.2088T>C | ENSP00000507027.1:p.Thr696= | |
| ENST00000682875.1:c.*167T>C | ENSP00000507771.1:n.*167T>C | |
| ENST00000682930.1:c.2013T>C | ENSP00000507981.1:p.Thr671= | |
| ENST00000682948.1:n.3120T>C | ||
| ENST00000682960.1:n.4329T>C | ||
| ENST00000683008.1:n.5543T>C | ||
| ENST00000683020.1:c.*629T>C | ENSP00000507944.1:n.*629T>C | |
| ENST00000683099.1:n.4117T>C | ||
| ENST00000683170.1:n.3813T>C | ||
| ENST00000683212.1:c.*629T>C | ENSP00000507839.1:n.*629T>C | |
| ENST00000683248.1:n.4046T>C | ||
| ENST00000683343.1:n.2942T>C | ||
| ENST00000683347.1:n.2295T>C | ||
| ENST00000683384.1:c.2109T>C | ENSP00000508330.1:n.2109T>C | |
| ENST00000683396.1:n.4865T>C | ||
| ENST00000683410.1:n.2569T>C | ||
| ENST00000683443.1:n.1722T>C | ||
| ENST00000683485.1:n.4656T>C | ||
| ENST00000683504.1:n.7679T>C | ||
| ENST00000683533.1:c.*1512T>C | ENSP00000508296.1:n.*1512T>C | |
| ENST00000683609.1:n.4157T>C | ||
| ENST00000683644.1:c.*1262T>C | ENSP00000507914.1:n.*1262T>C | |
| ENST00000683690.1:c.*3540T>C | ENSP00000508152.1:n.*3540T>C | |
| ENST00000683757.1:n.2077T>C | ||
| ENST00000683858.1:c.2040T>C | ENSP00000507657.1:p.Thr680= | |
| ENST00000683875.1:c.1860T>C | ENSP00000507602.1:p.Thr620= | |
| ENST00000683904.1:n.4393T>C | ||
| ENST00000683910.1:n.4783T>C | ||
| ENST00000683959.1:c.*1137T>C | ENSP00000508309.1:n.*1137T>C | |
| ENST00000683976.1:c.*1637T>C | ENSP00000507183.1:n.*1637T>C | |
| ENST00000683978.1:n.2231T>C | ||
| ENST00000683992.1:c.*1728T>C | ENSP00000508144.1:n.*1728T>C | |
| ENST00000684020.1:n.2510T>C | ||
| ENST00000684044.1:n.3076T>C | ||
| ENST00000684057.1:n.3006T>C | ||
| ENST00000684076.1:n.3468T>C | ||
| ENST00000684128.1:n.3656T>C | ||
| ENST00000684194.1:n.3719T>C | ||
| ENST00000684205.1:n.3767T>C | ||
| ENST00000684246.1:c.*1728T>C | ENSP00000508273.1:n.*1728T>C | |
| ENST00000684388.1:c.1008T>C | ENSP00000507647.1:p.Thr336= | |
| ENST00000684402.1:n.3329T>C | ||
| ENST00000684446.1:n.3572T>C | ||
| ENST00000684531.1:n.3530T>C | ||
| ENST00000684635.1:c.1983T>C | ENSP00000507335.1:p.Thr661= | |
| ENST00000684640.1:c.2050T>C | ENSP00000507292.1:n.2050T>C | |
| ENST00000684673.1:c.*683T>C | ENSP00000507746.1:n.*683T>C | |
| ENST00000684684.1:c.*1340T>C | ENSP00000507026.1:n.*1340T>C | |
| ENST00000245157.11:c.2088T>C MANE Select | ENSP00000245157.5:p.Thr696= | |
| ENST00000245157.9:c.2088T>C | ENSP00000245157.5:p.Thr696= | |
| ENST00000562813.1:n.3575T>C | ||
| ENST00000564123.6:c.178T>C | ||
| ENST00000564459.5:c.351T>C | ENSP00000463731.1:p.Thr117= | |
| ENST00000565781.5:n.5619T>C | ||
| ENST00000568104.5:c.1950T>C | ENSP00000456289.1:p.Thr650= | |
| NM_031885.3:c.2088T>C | NP_114091.3:p.Thr696= | |
| XM_005256080.1:c.2088T>C | XP_005256137.1:p.Thr696= | |
| XM_005256080.2:c.2088T>C | XP_005256137.1:p.Thr696= | |
| XR_001751958.1:n.2449T>C | ||
| XR_001751959.2:n.2446T>C | ||
| XR_001751960.1:n.2149T>C | ||
| XR_001751961.1:n.2149T>C | ||
| XR_933380.2:n.2277T>C | ||
| NM_031885.4:c.2088T>C | NP_114091.3:p.Thr696= | |
| NM_001377456.1:c.2088T>C | NP_001364385.1:p.Thr696= | |
| NM_031885.5:c.2088T>C MANE Select | NP_114091.4:p.Thr696= | |
| NR_165293.1:n.2378T>C | ||
| NR_165294.1:n.2375T>C | ||
| NR_165295.1:n.2206T>C | ||
| NR_165296.1:n.2078T>C | ||
| NR_165297.1:n.2078T>C |