Revel Score:
ENST00000422127
0.313
ENST00000366707
0.313
ENST00000441106
0.110
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00259538 (MID)
Genomes Max Group AF
0.0048961 (AMR)
Exomes Max Group AF
0.00272758 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.228377508G>A , CM000663.2:g.228377508G>A | GRCh38 |
| NC_000001.10:g.228565209G>A , CM000663.1:g.228565209G>A | GRCh37 |
| NC_000001.9:g.226631832G>A | NCBI36 |
| NG_032122.1:g.174349G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570156.7:c.26170G>A | ENSP00000455507.2:p.Glu8724Lys | |
| ENST00000636476.2:c.23302G>A | ENSP00000489816.2:p.Glu7768Lys | |
| ENST00000662438.1:c.24844G>A | ENSP00000499633.1:p.Glu8282Lys | |
| ENST00000664353.1:c.1845G>A | ||
| ENST00000664862.1:n.1603G>A | ||
| ENST00000665495.1:c.1085G>A | ||
| ENST00000680850.1:c.26170G>A MANE Select | ENSP00000505517.1:p.Glu8724Lys | |
| ENST00000366707.8:c.26170G>A | ENSP00000355668.5:p.Glu8724Lys | |
| ENST00000422127.5:c.23299G>A | ENSP00000409493.1:p.Glu7767Lys | |
| ENST00000570156.6:c.26170G>A | ENSP00000455507.2:p.Glu8724Lys | |
| NM_001098623.2:c.23299G>A | NP_001092093.2:p.Glu7767Lys | |
| NM_001271223.2:c.26170G>A | NP_001258152.2:p.Glu8724Lys | |
| XM_005273287.3:c.26476G>A | XP_005273344.1:p.Glu8826Lys | |
| XM_005273288.3:c.26473G>A | XP_005273345.1:p.Glu8825Lys | |
| XM_005273289.3:c.26473G>A | XP_005273346.1:p.Glu8825Lys | |
| XM_005273290.3:c.26473G>A | XP_005273347.1:p.Glu8825Lys | |
| XM_005273291.3:c.26440G>A | XP_005273348.1:p.Glu8814Lys | |
| XM_005273292.3:c.26212G>A | XP_005273349.1:p.Glu8738Lys | |
| XM_005273293.3:c.26212G>A | XP_005273350.1:p.Glu8738Lys | |
| XM_005273294.3:c.26212G>A | XP_005273351.1:p.Glu8738Lys | |
| XM_005273295.3:c.26200G>A | XP_005273352.1:p.Glu8734Lys | |
| XM_005273296.3:c.26200G>A | XP_005273353.1:p.Glu8734Lys | |
| XM_005273297.3:c.26200G>A | XP_005273354.1:p.Glu8734Lys | |
| XM_005273298.3:c.26167G>A | XP_005273355.1:p.Glu8723Lys | |
| XM_005273299.3:c.25948G>A | XP_005273356.1:p.Glu8650Lys | |
| XM_005273300.3:c.25948G>A | XP_005273357.1:p.Glu8650Lys | |
| XM_005273301.3:c.25948G>A | XP_005273358.1:p.Glu8650Lys | |
| XM_005273302.3:c.25924G>A | XP_005273359.1:p.Glu8642Lys | |
| XM_005273304.3:c.25684G>A | XP_005273361.1:p.Glu8562Lys | |
| XM_005273305.3:c.25420G>A | XP_005273362.1:p.Glu8474Lys | |
| XM_005273307.3:c.25354G>A | XP_005273364.1:p.Glu8452Lys | |
| XM_006711819.2:c.26326G>A | XP_006711882.1:p.Glu8776Lys | |
| XM_006711820.2:c.26212G>A | XP_006711883.1:p.Glu8738Lys | |
| XM_006711821.2:c.25936G>A | XP_006711884.1:p.Glu8646Lys | |
| XM_006711822.2:c.25900G>A | XP_006711885.1:p.Glu8634Lys | |
| XM_006711823.2:c.25894G>A | XP_006711886.1:p.Glu8632Lys | |
| XM_006711824.2:c.24892G>A | XP_006711887.1:p.Glu8298Lys | |
| XM_006711825.2:c.23572G>A | XP_006711888.1:p.Glu7858Lys | |
| XM_006711828.2:c.26170G>A | XP_006711891.1:p.Glu8724Lys | |
| XM_011544290.1:c.26200G>A | XP_011542592.1:p.Glu8734Lys | |
| XM_011544291.1:c.25903G>A | XP_011542593.1:p.Glu8635Lys | |
| XM_011544292.1:c.25684G>A | XP_011542594.1:p.Glu8562Lys | |
| XM_011544293.1:c.25684G>A | XP_011542595.1:p.Glu8562Lys | |
| XM_011544294.1:c.25684G>A | XP_011542596.1:p.Glu8562Lys | |
| XM_011544295.1:c.25372G>A | XP_011542597.1:p.Glu8458Lys | |
| XM_011544296.1:c.24628G>A | XP_011542598.1:p.Glu8210Lys | |
| XM_011544297.1:c.24310G>A | XP_011542599.1:p.Glu8104Lys | |
| XM_011544299.1:c.24034G>A | XP_011542601.1:p.Glu8012Lys | |
| XM_005273287.5:c.26476G>A | XP_005273344.1:p.Glu8826Lys | |
| XM_005273291.5:c.26440G>A | XP_005273348.1:p.Glu8814Lys | |
| XM_005273298.5:c.26167G>A | XP_005273355.1:p.Glu8723Lys | |
| XM_005273307.5:c.25354G>A | XP_005273364.1:p.Glu8452Lys | |
| XM_006711822.4:c.25900G>A | XP_006711885.1:p.Glu8634Lys | |
| XM_006711823.4:c.25894G>A | XP_006711886.1:p.Glu8632Lys | |
| XM_011544297.3:c.24310G>A | XP_011542599.1:p.Glu8104Lys | |
| XM_011544299.3:c.24034G>A | XP_011542601.1:p.Glu8012Lys | |
| XM_017002443.2:c.26521G>A | XP_016857932.1:p.Glu8841Lys | |
| XM_017002444.2:c.26521G>A | XP_016857933.1:p.Glu8841Lys | |
| XM_017002445.2:c.26518G>A | XP_016857934.1:p.Glu8840Lys | |
| XM_017002446.2:c.26518G>A | XP_016857935.1:p.Glu8840Lys | |
| XM_017002447.2:c.26518G>A | XP_016857936.1:p.Glu8840Lys | |
| XM_017002448.2:c.26371G>A | XP_016857937.1:p.Glu8791Lys | |
| XM_017002449.2:c.26257G>A | XP_016857938.1:p.Glu8753Lys | |
| XM_017002450.2:c.26257G>A | XP_016857939.1:p.Glu8753Lys | |
| XM_017002451.2:c.26257G>A | XP_016857940.1:p.Glu8753Lys | |
| XM_017002452.2:c.26257G>A | XP_016857941.1:p.Glu8753Lys | |
| XM_017002453.2:c.26245G>A | XP_016857942.1:p.Glu8749Lys | |
| XM_017002454.2:c.26245G>A | XP_016857943.1:p.Glu8749Lys | |
| XM_017002455.2:c.26245G>A | XP_016857944.1:p.Glu8749Lys | |
| XM_017002456.2:c.26245G>A | XP_016857945.1:p.Glu8749Lys | |
| XM_017002457.2:c.26245G>A | XP_016857946.1:p.Glu8749Lys | |
| XM_017002458.2:c.25993G>A | XP_016857947.1:p.Glu8665Lys | |
| XM_017002459.2:c.25993G>A | XP_016857948.1:p.Glu8665Lys | |
| XM_017002460.2:c.25993G>A | XP_016857949.1:p.Glu8665Lys | |
| XM_017002461.2:c.25981G>A | XP_016857950.1:p.Glu8661Lys | |
| XM_017002462.2:c.25969G>A | XP_016857951.1:p.Glu8657Lys | |
| XM_017002463.2:c.25948G>A | XP_016857952.1:p.Glu8650Lys | |
| XM_017002464.2:c.25897G>A | XP_016857953.1:p.Glu8633Lys | |
| XM_017002465.2:c.25729G>A | XP_016857954.1:p.Glu8577Lys | |
| XM_017002466.2:c.25729G>A | XP_016857955.1:p.Glu8577Lys | |
| XM_017002467.2:c.25729G>A | XP_016857956.1:p.Glu8577Lys | |
| XM_017002468.2:c.25465G>A | XP_016857957.1:p.Glu8489Lys | |
| XM_017002469.2:c.24937G>A | XP_016857958.1:p.Glu8313Lys | |
| XM_017002470.2:c.23617G>A | XP_016857959.1:p.Glu7873Lys | |
| NM_001271223.3:c.26170G>A | NP_001258152.2:p.Glu8724Lys | |
| NM_001386125.1:c.26170G>A MANE Select | NP_001373054.1:p.Glu8724Lys |