ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001454 (NFE)
Genomes Max Group AF
0.00002846 (NFE)
Exomes Max Group AF
0.00001175 (NFE)
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204979426C>T , CM000663.2:g.204979426C>T | GRCh38 |
| NC_000001.10:g.204948554C>T , CM000663.1:g.204948554C>T | GRCh37 |
| NC_000001.9:g.203215177C>T | NCBI36 |
| NG_029938.1:g.155773C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000430393.7:c.2031C>T | ENSP00000415031.3:p.Tyr677= | |
| ENST00000513543.6:c.2031C>T | ENSP00000425908.1:p.Tyr677= | |
| ENST00000539706.6:c.2076C>T MANE Plus Clinical | ENSP00000438614.2:p.Tyr692= | |
| ENST00000339876.11:c.2043C>T MANE Select | ENSP00000344786.6:p.Tyr681= | |
| ENST00000430393.6:c.2076C>T | ENSP00000415031.2:p.Tyr692= | |
| ENST00000339876.10:c.2043C>T | ENSP00000344786.6:p.Tyr681= | |
| ENST00000360049.8:c.2031C>T | ENSP00000353154.4:p.Tyr677= | |
| ENST00000367173.7:c.1952C>T | ||
| ENST00000401399.5:c.2043C>T | ENSP00000385637.1:p.Tyr681= | |
| ENST00000404076.5:c.1980C>T | ENSP00000385676.1:p.Tyr660= | |
| ENST00000404907.5:c.2031C>T | ENSP00000384061.1:p.Tyr677= | |
| ENST00000404977.6:n.2620C>T | ||
| ENST00000430393.5:c.2004C>T | ENSP00000415031.1:p.Tyr668= | |
| ENST00000471392.1:n.39C>T | ||
| ENST00000504476.5:c.*722C>T | ENSP00000422524.1:n.*722C>T | |
| ENST00000512826.5:n.1424C>T | ||
| ENST00000513543.5:c.2031C>T | ENSP00000425908.1:p.Tyr677= | |
| ENST00000539706.5:c.2031C>T | ENSP00000438614.1:p.Tyr677= | |
| NM_001005388.2:c.2043C>T | NP_001005388.2:p.Tyr681= | |
| NM_001160331.1:c.2076C>T | NP_001153803.1:p.Tyr692= | |
| NM_001160332.1:c.2031C>T | NP_001153804.1:p.Tyr677= | |
| NM_015090.3:c.2031C>T | NP_055905.2:p.Tyr677= | |
| XM_005244989.3:c.2307C>T | XP_005245046.2:p.Tyr769= | |
| XM_005244991.3:c.2262C>T | XP_005245048.2:p.Tyr754= | |
| XM_005244992.3:c.2262C>T | XP_005245049.2:p.Tyr754= | |
| XM_005244993.3:c.2211C>T | XP_005245050.2:p.Tyr737= | |
| XM_011509311.1:c.2094C>T | XP_011507613.1:p.Tyr698= | |
| XM_011509312.1:c.2307C>T | XP_011507614.1:p.Tyr769= | |
| XM_011509313.1:c.2049C>T | XP_011507615.1:p.Tyr683= | |
| XM_011509314.1:c.2256C>T | XP_011507616.1:p.Tyr752= | |
| XM_011509315.1:c.1998C>T | XP_011507617.1:p.Tyr666= | |
| XM_011509316.1:c.2094C>T | XP_011507618.1:p.Tyr698= | |
| XM_011509317.1:c.2094C>T | XP_011507619.1:p.Tyr698= | |
| XM_011509318.1:c.2382C>T | XP_011507620.1:p.Tyr794= | |
| XM_011509319.1:c.2043C>T | XP_011507621.1:p.Tyr681= | |
| XM_011509320.1:c.2331C>T | XP_011507622.1:p.Tyr777= | |
| XM_011509321.1:c.2094C>T | XP_011507623.1:p.Tyr698= | |
| XM_011509322.1:c.2094C>T | XP_011507624.1:p.Tyr698= | |
| XM_011509323.1:c.2094C>T | XP_011507625.1:p.Tyr698= | |
| XM_011509324.1:c.2094C>T | XP_011507626.1:p.Tyr698= | |
| XM_011509325.1:c.2094C>T | XP_011507627.1:p.Tyr698= | |
| XM_011509326.1:c.2094C>T | XP_011507628.1:p.Tyr698= | |
| XM_011509327.1:c.2094C>T | XP_011507629.1:p.Tyr698= | |
| XM_011509328.1:c.2043C>T | XP_011507630.1:p.Tyr681= | |
| XR_921759.1:n.2184C>T | ||
| NM_001365986.1:c.2031C>T | NP_001352915.1:p.Tyr677= | |
| XM_005244992.4:c.2262C>T | XP_005245049.2:p.Tyr754= | |
| XM_011509311.2:c.2541C>T | XP_011507613.2:p.Tyr847= | |
| XM_011509318.2:c.2382C>T | XP_011507620.1:p.Tyr794= | |
| XM_011509320.2:c.2331C>T | XP_011507622.1:p.Tyr777= | |
| XM_011509321.2:c.2541C>T | XP_011507623.2:p.Tyr847= | |
| XM_011509322.2:c.2541C>T | XP_011507624.2:p.Tyr847= | |
| XM_011509323.2:c.2541C>T | XP_011507625.2:p.Tyr847= | |
| XM_011509325.2:c.2541C>T | XP_011507627.2:p.Tyr847= | |
| XM_011509326.2:c.2541C>T | XP_011507628.2:p.Tyr847= | |
| XM_011509327.2:c.2541C>T | XP_011507629.2:p.Tyr847= | |
| XM_011509328.2:c.2490C>T | XP_011507630.2:p.Tyr830= | |
| XM_017000733.1:c.2262C>T | XP_016856222.1:p.Tyr754= | |
| XM_017000734.1:c.2211C>T | XP_016856223.1:p.Tyr737= | |
| XM_017000738.1:c.2337C>T | XP_016856227.1:p.Tyr779= | |
| XM_017000739.1:c.2337C>T | XP_016856228.1:p.Tyr779= | |
| XM_017000740.1:c.2337C>T | XP_016856229.1:p.Tyr779= | |
| XM_017000741.1:c.933C>T | XP_016856230.1:p.Tyr311= | |
| XM_017000742.2:c.933C>T | XP_016856231.1:p.Tyr311= | |
| XM_024454283.1:c.2541C>T | XP_024310051.1:p.Tyr847= | |
| XM_024454285.1:c.2496C>T | XP_024310053.1:p.Tyr832= | |
| XM_024454288.1:c.2490C>T | XP_024310056.1:p.Tyr830= | |
| XM_024454292.1:c.2445C>T | XP_024310060.1:p.Tyr815= | |
| XM_024454296.1:c.2490C>T | XP_024310064.1:p.Tyr830= | |
| XM_024454297.1:c.2541C>T | XP_024310065.1:p.Tyr847= | |
| XM_024454299.1:c.2496C>T | XP_024310067.1:p.Tyr832= | |
| XM_024454300.1:c.2043C>T | XP_024310068.1:p.Tyr681= | |
| XM_024454301.1:c.2043C>T | XP_024310069.1:p.Tyr681= | |
| XM_024454302.1:c.2043C>T | XP_024310070.1:p.Tyr681= | |
| NM_001005388.3:c.2043C>T MANE Select | NP_001005388.2:p.Tyr681= | |
| NM_001160331.2:c.2076C>T MANE Plus Clinical | NP_001153803.1:p.Tyr692= | |
| NM_001160332.2:c.2031C>T | NP_001153804.1:p.Tyr677= | |
| NM_001378329.1:c.2043C>T | NP_001365258.1:p.Tyr681= | |
| NM_015090.4:c.2031C>T | NP_055905.2:p.Tyr677= |