Revel Score:
ENST00000478654
0.298
ENST00000320356 (MANE Select)
0.298
ENST00000460911
0.298
ENST00000350995
0.298
ENST00000541220
0.298
ENST00000476773
0.298
ENST00000483967
0.298
ENST00000536783
0.298
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.148828815C>T , CM000669.2:g.148828815C>T | GRCh38 |
| NC_000007.13:g.148525907C>T , CM000669.1:g.148525907C>T | GRCh37 |
| NC_000007.12:g.148156840C>T | NCBI36 |
| NG_032043.1:g.60535G>A , LRG_531:g.60535G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682263.1:n.698G>A | ||
| ENST00000682317.1:c.433G>A | ENSP00000508286.1:p.Asp145Asn | |
| ENST00000682401.1:n.565G>A | ||
| ENST00000683292.1:c.223G>A | ENSP00000507503.1:p.Asp75Asn | |
| ENST00000683744.1:c.550G>A | ENSP00000506949.1:p.Asp184Asn | |
| ENST00000684300.1:c.433G>A | ENSP00000508407.1:p.Asp145Asn | |
| ENST00000320356.7:c.550G>A MANE Select | ENSP00000320147.2:p.Asp184Asn | |
| ENST00000320356.6:c.550G>A | ENSP00000320147.2:p.Asp184Asn | |
| ENST00000350995.6:c.433G>A | ENSP00000223193.2:p.Asp145Asn | |
| ENST00000460911.5:c.550G>A | ENSP00000419711.1:p.Asp184Asn | |
| ENST00000476773.5:c.523G>A | ENSP00000419050.1:p.Asp175Asn | |
| ENST00000478654.5:c.523G>A | ENSP00000417062.1:p.Asp175Asn | |
| ENST00000483012.1:c.*294G>A | ENSP00000417704.1:n.*294G>A | |
| ENST00000483967.5:c.523G>A | ENSP00000419856.1:p.Asp175Asn | |
| ENST00000492143.5:c.550G>A | ENSP00000417377.1:p.Asp184Asn | |
| ENST00000498186.5:n.681G>A | ||
| NM_001203247.1:c.550G>A | NP_001190176.1:p.Asp184Asn | |
| NM_001203248.1:c.523G>A | NP_001190177.1:p.Asp175Asn | |
| NM_001203249.1:c.523G>A | NP_001190178.1:p.Asp175Asn | |
| NM_004456.4:c.550G>A , LRG_531t1:c.550G>A | NP_004447.2:p.Asp184Asn | |
| NM_152998.2:c.433G>A | NP_694543.1:p.Asp145Asn | |
| XM_005249962.3:c.574G>A | XP_005250019.1:p.Asp192Asn | |
| XM_005249963.3:c.547G>A | XP_005250020.1:p.Asp183Asn | |
| XM_005249964.3:c.547G>A | XP_005250021.1:p.Asp183Asn | |
| XM_011515883.1:c.574G>A | XP_011514185.1:p.Asp192Asn | |
| XM_011515884.1:c.550G>A | XP_011514186.1:p.Asp184Asn | |
| XM_011515885.1:c.547G>A | XP_011514187.1:p.Asp183Asn | |
| XM_011515886.1:c.526G>A | XP_011514188.1:p.Asp176Asn | |
| XM_011515887.1:c.523G>A | XP_011514189.1:p.Asp175Asn | |
| XM_011515888.1:c.523G>A | XP_011514190.1:p.Asp175Asn | |
| XM_011515889.1:c.484G>A | XP_011514191.1:p.Asp162Asn | |
| XM_011515890.1:c.457G>A | XP_011514192.1:p.Asp153Asn | |
| XM_011515891.1:c.451G>A | XP_011514193.1:p.Asp151Asn | |
| XM_011515892.1:c.574G>A | XP_011514194.1:p.Asp192Asn | |
| XM_011515893.1:c.457G>A | XP_011514195.1:p.Asp153Asn | |
| XM_011515894.1:c.433G>A | XP_011514196.1:p.Asp145Asn | |
| XM_011515895.1:c.430G>A | XP_011514197.1:p.Asp144Asn | |
| XM_011515896.1:c.457G>A | XP_011514198.1:p.Asp153Asn | |
| XM_011515897.1:c.223G>A | XP_011514199.1:p.Asp75Asn | |
| XM_011515898.1:c.223G>A | XP_011514200.1:p.Asp75Asn | |
| XM_011515899.1:c.574G>A | XP_011514201.1:p.Asp192Asn | |
| XM_011515900.1:c.574G>A | XP_011514202.1:p.Asp192Asn | |
| XM_011515901.1:c.574G>A | XP_011514203.1:p.Asp192Asn | |
| XM_011515902.1:c.574G>A | XP_011514204.1:p.Asp192Asn | |
| XM_005249962.4:c.574G>A | XP_005250019.1:p.Asp192Asn | |
| XM_005249963.4:c.547G>A | XP_005250020.1:p.Asp183Asn | |
| XM_005249964.4:c.547G>A | XP_005250021.1:p.Asp183Asn | |
| XM_011515883.2:c.574G>A | XP_011514185.1:p.Asp192Asn | |
| XM_011515884.2:c.550G>A | XP_011514186.1:p.Asp184Asn | |
| XM_011515885.2:c.547G>A | XP_011514187.1:p.Asp183Asn | |
| XM_011515886.2:c.526G>A | XP_011514188.1:p.Asp176Asn | |
| XM_011515887.3:c.523G>A | XP_011514189.1:p.Asp175Asn | |
| XM_011515888.2:c.523G>A | XP_011514190.1:p.Asp175Asn | |
| XM_011515889.2:c.484G>A | XP_011514191.1:p.Asp162Asn | |
| XM_011515890.2:c.457G>A | XP_011514192.1:p.Asp153Asn | |
| XM_011515891.3:c.451G>A | XP_011514193.1:p.Asp151Asn | |
| XM_011515892.2:c.574G>A | XP_011514194.1:p.Asp192Asn | |
| XM_011515893.2:c.457G>A | XP_011514195.1:p.Asp153Asn | |
| XM_011515894.2:c.433G>A | XP_011514196.1:p.Asp145Asn | |
| XM_011515895.2:c.430G>A | XP_011514197.1:p.Asp144Asn | |
| XM_011515896.2:c.457G>A | XP_011514198.1:p.Asp153Asn | |
| XM_011515897.2:c.223G>A | XP_011514199.1:p.Asp75Asn | |
| XM_011515898.2:c.223G>A | XP_011514200.1:p.Asp75Asn | |
| XM_011515899.3:c.574G>A | XP_011514201.1:p.Asp192Asn | |
| XM_011515901.3:c.574G>A | XP_011514203.1:p.Asp192Asn | |
| XM_017011817.2:c.574G>A | XP_016867306.1:p.Asp192Asn | |
| XM_017011818.1:c.526G>A | XP_016867307.1:p.Asp176Asn | |
| XM_017011819.1:c.574G>A | XP_016867308.1:p.Asp192Asn | |
| XM_017011820.2:c.406G>A | XP_016867309.1:p.Asp136Asn | |
| XM_017011821.1:c.223G>A | XP_016867310.1:p.Asp75Asn | |
| XM_024446680.1:c.451G>A | XP_024302448.1:p.Asp151Asn | |
| XR_001744581.1:n.3189G>A | ||
| XR_002956413.1:n.3187G>A | ||
| XR_002956414.1:n.3189G>A | ||
| NM_001203247.2:c.550G>A | NP_001190176.1:p.Asp184Asn | |
| NM_001203248.2:c.523G>A | NP_001190177.1:p.Asp175Asn | |
| NM_001203249.2:c.523G>A | NP_001190178.1:p.Asp175Asn | |
| NM_004456.5:c.550G>A MANE Select | NP_004447.2:p.Asp184Asn | |
| NM_152998.3:c.433G>A | NP_694543.1:p.Asp145Asn |