Revel Score:
ENST00000553447
0.020
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001744 (AFR)
Genomes Max Group AF
0.00000797 (AFR)
Exomes Max Group AF
0.00001544 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.73170826C>T , CM000676.2:g.73170826C>T | GRCh38 |
| NC_000014.8:g.73637534C>T , CM000676.1:g.73637534C>T | GRCh37 |
| NC_000014.7:g.72707287C>T | NCBI36 |
| NG_007386.2:g.39356C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553447.7:c.*61C>T | ENSP00000514869.1:n.*61C>T | |
| ENST00000553599.6:c.105C>T | ENSP00000452477.2:p.Asn35= | |
| ENST00000554131.6:c.117C>T | ENSP00000451915.2:p.Asn39= | |
| ENST00000555386.6:c.105C>T | ENSP00000450845.1:p.Asn35= | |
| ENST00000556011.6:c.*61C>T | ENSP00000451662.2:n.*61C>T | |
| ENST00000556066.2:n.543C>T | ||
| ENST00000556951.6:c.105C>T | ENSP00000450551.2:p.Asn35= | |
| ENST00000557293.6:c.117C>T | ENSP00000451880.2:p.Asn39= | |
| ENST00000559361.6:c.*61C>T | ENSP00000454156.1:n.*61C>T | |
| ENST00000697912.1:c.105C>T | ENSP00000513477.1:p.Asn35= | |
| ENST00000697913.1:n.371C>T | ||
| ENST00000697914.1:n.329C>T | ||
| ENST00000700265.1:c.105C>T | ENSP00000514901.1:p.Asn35= | |
| ENST00000700266.1:c.*206C>T | ENSP00000514902.1:n.*206C>T | |
| ENST00000700267.1:c.117C>T | ENSP00000514903.1:p.Asn39= | |
| ENST00000700268.1:c.117C>T | ENSP00000514904.1:p.Asn39= | |
| ENST00000700269.1:c.117C>T | ENSP00000514905.1:p.Asn39= | |
| ENST00000700270.1:n.373C>T | ||
| ENST00000700271.1:c.105C>T | ENSP00000514906.1:p.Asn35= | |
| ENST00000700272.1:c.*61C>T | ENSP00000514907.1:n.*61C>T | |
| ENST00000700273.1:c.105C>T | ENSP00000514908.1:p.Asn35= | |
| ENST00000700302.1:c.117C>T | ENSP00000514929.1:p.Asn39= | |
| ENST00000700303.1:c.105C>T | ENSP00000514930.1:p.Asn35= | |
| ENST00000700304.1:c.*61C>T | ENSP00000514931.1:n.*61C>T | |
| ENST00000700305.1:c.105C>T | ENSP00000514932.1:p.Asn35= | |
| ENST00000700306.1:c.117C>T | ENSP00000514933.1:p.Asn39= | |
| ENST00000700307.1:c.117C>T | ENSP00000514934.1:p.Asn39= | |
| ENST00000700308.1:c.*61C>T | ENSP00000514935.1:n.*61C>T | |
| ENST00000700309.1:c.*206C>T | ENSP00000514936.1:n.*206C>T | |
| ENST00000700310.1:c.105C>T | ENSP00000514937.1:p.Asn35= | |
| ENST00000700311.1:c.117C>T | ENSP00000514938.1:p.Asn39= | |
| ENST00000700312.1:c.-133C>T | ENSP00000514939.1:n.-133C>T | |
| ENST00000700313.1:c.105C>T | ENSP00000514940.1:p.Asn35= | |
| ENST00000700314.1:c.*56C>T | ENSP00000514941.1:n.*56C>T | |
| ENST00000700315.1:c.117C>T | ENSP00000514942.1:p.Asn39= | |
| ENST00000700316.1:c.209C>T | ENSP00000514943.1:p.Thr70Met | |
| ENST00000700317.1:c.117C>T | ENSP00000514944.1:p.Asn39= | |
| ENST00000700318.1:c.117C>T | ENSP00000514945.1:p.Asn39= | |
| ENST00000700319.1:c.117C>T | ENSP00000514946.1:p.Asn39= | |
| ENST00000700320.1:c.117C>T | ENSP00000514947.1:p.Asn39= | |
| ENST00000700321.1:c.117C>T | ENSP00000514948.1:p.Asn39= | |
| ENST00000700322.1:c.105C>T | ENSP00000514949.1:p.Asn35= | |
| ENST00000700323.1:c.117C>T | ENSP00000514950.1:p.Asn39= | |
| ENST00000700324.1:c.105C>T | ENSP00000514951.1:p.Asn35= | |
| ENST00000700375.1:c.117C>T | ENSP00000514966.1:p.Asn39= | |
| ENST00000700376.1:n.701C>T | ||
| ENST00000700377.1:c.117C>T | ENSP00000514967.1:p.Asn39= | |
| ENST00000700378.1:c.117C>T | ENSP00000514968.1:p.Asn39= | |
| ENST00000700379.1:n.515C>T | ||
| ENST00000700388.1:n.364C>T | ||
| ENST00000700389.1:c.105C>T | ENSP00000514970.1:p.Asn35= | |
| ENST00000700390.1:n.1828C>T | ||
| ENST00000700404.1:n.1000C>T | ||
| ENST00000700430.1:c.*61C>T | ENSP00000514985.1:n.*61C>T | |
| ENST00000700431.1:c.105C>T | ENSP00000514986.1:p.Asn35= | |
| ENST00000700432.1:n.474C>T | ||
| ENST00000700433.1:n.252C>T | ||
| ENST00000700434.1:n.370C>T | ||
| ENST00000700435.1:n.252C>T | ||
| ENST00000700436.1:c.117C>T | ENSP00000514987.1:p.Asn39= | |
| ENST00000700437.1:c.-133C>T | ENSP00000514988.1:n.-133C>T | |
| ENST00000700467.1:n.252C>T | ||
| ENST00000700468.1:c.105C>T | ENSP00000515001.1:p.Asn35= | |
| ENST00000700469.1:c.105C>T | ENSP00000515002.1:p.Asn35= | |
| ENST00000324501.10:c.117C>T MANE Select | ENSP00000326366.5:p.Asn39= | |
| ENST00000324501.9:c.117C>T | ENSP00000326366.5:p.Asn39= | |
| ENST00000357710.8:c.105C>T | ENSP00000350342.4:p.Asn35= | |
| ENST00000394157.7:c.117C>T | ENSP00000377712.3:p.Asn39= | |
| ENST00000394164.5:c.105C>T | ENSP00000377719.1:p.Asn35= | |
| ENST00000406768.1:c.-160C>T | ENSP00000385948.1:n.-160C>T | |
| ENST00000553447.6:n.514C>T | ||
| ENST00000553599.5:c.105C>T | ENSP00000452477.1:p.Asn35= | |
| ENST00000553719.5:c.105C>T | ENSP00000451674.1:p.Asn35= | |
| ENST00000553855.5:c.117C>T | ENSP00000452242.1:p.Asn39= | |
| ENST00000554131.5:c.117C>T | ENSP00000451915.1:p.Asn39= | |
| ENST00000555254.5:c.117C>T | ENSP00000450652.1:p.Asn39= | |
| ENST00000555386.5:c.105C>T | ENSP00000450845.1:p.Asn35= | |
| ENST00000556066.1:c.105C>T | ENSP00000452267.1:p.Asn35= | |
| ENST00000556533.5:c.105C>T | ENSP00000452128.1:p.Asn35= | |
| ENST00000556864.5:c.105C>T | ENSP00000451588.1:p.Asn35= | |
| ENST00000556951.5:c.105C>T | ENSP00000450551.1:p.Asn35= | |
| ENST00000557037.5:c.105C>T | ENSP00000451347.1:p.Asn35= | |
| ENST00000557293.5:c.117C>T | ENSP00000451880.1:p.Asn39= | |
| ENST00000557356.5:c.105C>T | ENSP00000451498.1:p.Asn35= | |
| ENST00000557511.5:c.117C>T | ENSP00000451429.1:p.Asn39= | |
| ENST00000559361.5:c.*61C>T | ENSP00000454156.1:n.*61C>T | |
| ENST00000560005.6:c.105C>T | ENSP00000453466.1:p.Asn35= | |
| NM_000021.3:c.117C>T | NP_000012.1:p.Asn39= | |
| NM_007318.2:c.105C>T | NP_015557.2:p.Asn35= | |
| XM_005267864.1:c.117C>T | XP_005267921.1:p.Asn39= | |
| XM_005267866.1:c.105C>T | XP_005267923.1:p.Asn35= | |
| XM_011536971.1:c.117C>T | XP_011535273.1:p.Asn39= | |
| XM_011536972.1:c.117C>T | XP_011535274.1:p.Asn39= | |
| XM_011536973.1:c.105C>T | XP_011535275.1:p.Asn35= | |
| XM_011536974.1:c.105C>T | XP_011535276.1:p.Asn35= | |
| XM_005267864.3:c.117C>T | XP_005267921.1:p.Asn39= | |
| XM_005267866.2:c.105C>T | XP_005267923.1:p.Asn35= | |
| XM_011536972.2:c.117C>T | XP_011535274.1:p.Asn39= | |
| XM_011536973.2:c.105C>T | XP_011535275.1:p.Asn35= | |
| XM_011536974.2:c.105C>T | XP_011535276.1:p.Asn35= | |
| NM_000021.4:c.117C>T MANE Select | NP_000012.1:p.Asn39= | |
| NM_007318.3:c.105C>T | NP_015557.2:p.Asn35= |