Revel Score:
ENST00000553728
0.035
ENST00000341749
0.035
ENST00000557038
0.035
ENST00000396165
0.035
ENST00000341502
0.035
ENST00000396158
0.035
ENST00000280083
0.035
ENST00000556148
0.035
ENST00000348007
0.035
ENST00000553352
0.035
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00001328 (AMR)
Exomes Max Group AF
0.00001779 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.39348824A>T , CM000676.2:g.39348824A>T | GRCh38 |
| NC_000014.8:g.39818028A>T , CM000676.1:g.39818028A>T | GRCh37 |
| NC_000014.7:g.38887779A>T | NCBI36 |
| NG_030349.1:g.88553A>T | |
| NG_030349.3:g.119904A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000640607.2:c.3919A>T MANE Select | ENSP00000491014.1:p.Ile1307Phe | |
| ENST00000640607.1:c.3919A>T | ENSP00000491014.1:p.Ile1307Phe | |
| ENST00000280083.7:c.2095A>T | ENSP00000280083.3:p.Ile699Phe | |
| ENST00000341502.9:c.2095A>T | ENSP00000339286.5:p.Ile699Phe | |
| ENST00000341749.7:c.2059A>T | ENSP00000343897.3:p.Ile687Phe | |
| ENST00000348007.7:c.1966A>T | ENSP00000343912.3:p.Ile656Phe | |
| ENST00000396158.6:c.2110A>T | ENSP00000379462.2:p.Ile704Phe | |
| ENST00000396165.8:c.2008A>T | ENSP00000379468.4:p.Ile670Phe | |
| ENST00000553352.1:c.2008A>T | ENSP00000450449.1:p.Ile670Phe | |
| ENST00000553383.1:n.309A>T | ||
| ENST00000553728.1:c.3700A>T | ENSP00000452252.1:p.Ile1234Phe | |
| ENST00000556148.5:c.1870A>T | ENSP00000452562.1:p.Ile624Phe | |
| ENST00000557038.5:c.1855A>T | ENSP00000450869.1:p.Ile619Phe | |
| NM_001247988.1:c.1879A>T | NP_001234917.1:p.Ile627Phe | |
| NM_001247989.1:c.2110A>T | NP_001234918.1:p.Ile704Phe | |
| NM_001247990.1:c.1870A>T | NP_001234919.1:p.Ile624Phe | |
| NM_005930.3:c.2095A>T | NP_005921.2:p.Ile699Phe | |
| NM_203354.2:c.2059A>T | NP_976229.1:p.Ile687Phe | |
| NM_203355.2:c.1966A>T | NP_976230.1:p.Ile656Phe | |
| NM_203356.2:c.2008A>T | NP_976231.1:p.Ile670Phe | |
| XM_005267648.3:c.2077A>T | XP_005267705.1:p.Ile693Phe | |
| XM_006720148.1:c.2008A>T | XP_006720211.1:p.Ile670Phe | |
| XM_011536775.1:c.2122A>T | XP_011535077.1:p.Ile708Phe | |
| XM_011536776.1:c.2104A>T | XP_011535078.1:p.Ile702Phe | |
| XM_011536778.1:c.2086A>T | XP_011535080.1:p.Ile696Phe | |
| XM_011536779.1:c.2035A>T | XP_011535081.1:p.Ile679Phe | |
| XM_011536780.1:c.2035A>T | XP_011535082.1:p.Ile679Phe | |
| XM_011536781.1:c.2035A>T | XP_011535083.1:p.Ile679Phe | |
| XM_011536782.1:c.1882A>T | XP_011535084.1:p.Ile628Phe | |
| XM_011536783.1:c.1882A>T | XP_011535085.1:p.Ile628Phe | |
| XM_011536784.1:c.1855A>T | XP_011535086.1:p.Ile619Phe | |
| XM_011536785.1:c.1855A>T | XP_011535087.1:p.Ile619Phe | |
| NM_001329214.2:c.3919A>T | NP_001316143.1:p.Ile1307Phe | |
| NM_001354137.1:c.2008A>T | NP_001341066.1:p.Ile670Phe | |
| NM_001354138.1:c.2008A>T | NP_001341067.1:p.Ile670Phe | |
| NM_001354139.1:c.1879A>T | NP_001341068.1:p.Ile627Phe | |
| NM_001354140.1:c.1855A>T | NP_001341069.1:p.Ile619Phe | |
| NM_001354141.1:c.1855A>T | NP_001341070.1:p.Ile619Phe | |
| NM_001354142.1:c.1726A>T | NP_001341071.1:p.Ile576Phe | |
| NM_001354143.1:c.1726A>T | NP_001341072.1:p.Ile576Phe | |
| NM_001354144.1:c.1726A>T | NP_001341073.1:p.Ile576Phe | |
| NM_001354145.1:c.1726A>T | NP_001341074.1:p.Ile576Phe | |
| NM_001354146.1:c.1930A>T | NP_001341075.1:p.Ile644Phe | |
| NM_001354147.1:c.1930A>T | NP_001341076.1:p.Ile644Phe | |
| NM_001354148.1:c.2008A>T | NP_001341077.1:p.Ile670Phe | |
| NM_001354149.1:c.1801A>T | NP_001341078.1:p.Ile601Phe | |
| NM_001354150.1:c.2077A>T | NP_001341079.1:p.Ile693Phe | |
| NM_001354151.1:c.2122A>T | NP_001341080.1:p.Ile708Phe | |
| NM_001354152.1:c.1993A>T | NP_001341081.1:p.Ile665Phe | |
| NM_001354153.1:c.1888A>T | NP_001341082.1:p.Ile630Phe | |
| NM_001354154.1:c.2095A>T | NP_001341083.1:p.Ile699Phe | |
| NM_001354155.1:c.1966A>T | NP_001341084.1:p.Ile656Phe | |
| NM_001354156.1:c.1777A>T | NP_001341085.1:p.Ile593Phe | |
| NM_001354157.1:c.2017A>T | NP_001341086.1:p.Ile673Phe | |
| NR_148721.1:n.2169A>T | ||
| NR_148722.1:n.2467A>T | ||
| NR_148723.1:n.2357A>T | ||
| XM_011536778.2:c.2086A>T | XP_011535080.1:p.Ile696Phe | |
| XM_011536785.2:c.1855A>T | XP_011535087.1:p.Ile619Phe | |
| XM_017021314.1:c.2137A>T | XP_016876803.1:p.Ile713Phe | |
| XM_017021315.2:c.2119A>T | XP_016876804.1:p.Ile707Phe | |
| XM_017021316.1:c.2101A>T | XP_016876805.1:p.Ile701Phe | |
| XM_017021317.2:c.2050A>T | XP_016876806.1:p.Ile684Phe | |
| XM_017021318.1:c.2050A>T | XP_016876807.1:p.Ile684Phe | |
| XM_017021319.1:c.2050A>T | XP_016876808.1:p.Ile684Phe | |
| XM_017021323.1:c.1897A>T | XP_016876812.1:p.Ile633Phe | |
| XM_017021324.2:c.1897A>T | XP_016876813.1:p.Ile633Phe | |
| XM_017021327.1:c.1726A>T | XP_016876816.1:p.Ile576Phe | |
| XM_017021330.1:c.2050A>T | XP_016876819.1:p.Ile684Phe | |
| XM_024449592.1:c.3961A>T | XP_024305360.1:p.Ile1321Phe | |
| XM_024449593.1:c.3946A>T | XP_024305361.1:p.Ile1316Phe | |
| XM_024449594.1:c.3934A>T | XP_024305362.1:p.Ile1312Phe | |
| XM_024449595.1:c.3832A>T | XP_024305363.1:p.Ile1278Phe | |
| XM_024449596.1:c.3790A>T | XP_024305364.1:p.Ile1264Phe | |
| XM_024449598.1:c.1897A>T | XP_024305366.1:p.Ile633Phe | |
| NM_001247990.2:c.1870A>T | NP_001234919.1:p.Ile624Phe | |
| NM_001329214.3:c.3919A>T | NP_001316143.1:p.Ile1307Phe | |
| NM_001354140.2:c.1855A>T | NP_001341069.1:p.Ile619Phe | |
| NM_001354141.2:c.1855A>T | NP_001341070.1:p.Ile619Phe | |
| NM_001354144.2:c.1726A>T | NP_001341073.1:p.Ile576Phe | |
| NM_001354145.2:c.1726A>T | NP_001341074.1:p.Ile576Phe | |
| NM_001354146.2:c.1930A>T | NP_001341075.1:p.Ile644Phe | |
| NM_001354150.2:c.2077A>T | NP_001341079.1:p.Ile693Phe | |
| NM_001354151.2:c.2122A>T | NP_001341080.1:p.Ile708Phe | |
| NM_001354152.2:c.1993A>T | NP_001341081.1:p.Ile665Phe | |
| NM_001354153.2:c.1888A>T | NP_001341082.1:p.Ile630Phe | |
| NM_001354154.2:c.2095A>T | NP_001341083.1:p.Ile699Phe | |
| NM_001354155.2:c.1966A>T | NP_001341084.1:p.Ile656Phe | |
| NM_001354156.2:c.1777A>T | NP_001341085.1:p.Ile593Phe | |
| NM_001354157.2:c.2017A>T | NP_001341086.1:p.Ile673Phe | |
| NM_005930.4:c.2095A>T | NP_005921.2:p.Ile699Phe | |
| NM_203354.3:c.2059A>T | NP_976229.1:p.Ile687Phe | |
| NM_203355.3:c.1966A>T | NP_976230.1:p.Ile656Phe | |
| NR_148722.2:n.2206A>T | ||
| NR_148723.2:n.2096A>T | ||
| NM_001247989.2:c.2110A>T | NP_001234918.1:p.Ile704Phe | |
| NM_001329214.4:c.3919A>T MANE Select | NP_001316143.1:p.Ile1307Phe | |
| NM_001354137.2:c.2008A>T | NP_001341066.1:p.Ile670Phe | |
| NM_001354139.2:c.1879A>T | NP_001341068.1:p.Ile627Phe |