COSMIC:
COSM4417290 (not active)
COSM4417291 (not active)
Revel Score:
ENST00000393808
0.082
ENST00000393805
0.082
ENST00000377332
0.082
ENST00000455892
0.082
ENST00000525834
0.082
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.31311959 (SAS)
Genomes Max Group AF
0.3292603 (SAS)
Exomes Max Group AF
0.31153454 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85861188T>C , CM000664.2:g.85861188T>C | GRCh38 |
| NC_000002.11:g.86088311T>C , CM000664.1:g.86088311T>C | GRCh37 |
| NC_000002.10:g.85941822T>C | NCBI36 |
| NG_012807.1:g.32847A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306262.10:c.*55A>G | ENSP00000306247.6:n.*55A>G | |
| ENST00000377332.8:c.311A>G | ENSP00000366549.4:p.His104Arg | |
| ENST00000393805.6:c.227A>G | ENSP00000377394.1:p.His76Arg | |
| ENST00000393808.8:c.242A>G | ENSP00000377397.3:p.His81Arg | |
| ENST00000433665.6:c.*354A>G | ENSP00000408635.1:n.*354A>G | |
| ENST00000461199.6:n.763A>G | ||
| ENST00000461892.6:n.316A>G | ||
| ENST00000473122.6:c.311A>G | ENSP00000491314.1:p.His104Arg | |
| ENST00000484728.6:n.322A>G | ||
| ENST00000638178.1:c.227A>G | ENSP00000492103.1:p.His76Arg | |
| ENST00000638227.1:c.*354A>G | ENSP00000492602.1:n.*354A>G | |
| ENST00000638288.1:c.227A>G | ENSP00000491699.1:p.His76Arg | |
| ENST00000638321.1:c.208A>G | ||
| ENST00000638484.1:c.*354A>G | ENSP00000492635.1:n.*354A>G | |
| ENST00000638523.1:c.208A>G | ||
| ENST00000638542.1:c.206+2174A>G | ENSP00000492468.1:n.206+2174A>G | |
| ENST00000638572.2:c.311A>G MANE Select | ENSP00000491316.1:p.His104Arg | |
| ENST00000638581.1:n.337A>G | ||
| ENST00000638659.1:c.497A>G | ||
| ENST00000638678.1:c.309A>G | ||
| ENST00000638855.1:c.206+2174A>G | ENSP00000490979.1:n.206+2174A>G | |
| ENST00000638885.1:c.311A>G | ENSP00000492209.1:p.His104Arg | |
| ENST00000638956.1:c.311A>G | ENSP00000492097.1:p.His104Arg | |
| ENST00000638986.1:c.227A>G | ENSP00000491853.1:p.His76Arg | |
| ENST00000639119.1:c.311A>G | ENSP00000492045.1:p.His104Arg | |
| ENST00000639184.1:c.227A>G | ENSP00000492305.1:p.His76Arg | |
| ENST00000639202.1:c.194A>G | ENSP00000492710.1:p.His65Arg | |
| ENST00000639216.1:n.333A>G | ||
| ENST00000639305.1:c.309A>G | ||
| ENST00000639311.1:c.311A>G | ENSP00000491398.1:p.His104Arg | |
| ENST00000639421.1:c.498A>G | ENSP00000491029.1:n.498A>G | |
| ENST00000639432.1:c.227A>G | ENSP00000491828.1:p.His76Arg | |
| ENST00000639519.1:c.113A>G | ENSP00000491857.1:p.His38Arg | |
| ENST00000639541.1:c.311A>G | ENSP00000492280.1:p.His104Arg | |
| ENST00000639608.1:c.311A>G | ENSP00000492473.1:p.His104Arg | |
| ENST00000639690.1:c.411A>G | ENSP00000491917.1:n.411A>G | |
| ENST00000639820.1:c.*568A>G | ENSP00000491802.1:n.*568A>G | |
| ENST00000639945.1:c.311A>G | ENSP00000492866.1:p.His104Arg | |
| ENST00000639981.1:c.217A>G | ||
| ENST00000640024.1:c.311A>G | ENSP00000491238.1:p.His104Arg | |
| ENST00000640222.1:c.232A>G | ||
| ENST00000640295.1:c.498A>G | ENSP00000491027.1:n.498A>G | |
| ENST00000640314.1:c.474A>G | ENSP00000491315.1:n.474A>G | |
| ENST00000640315.1:c.287A>G | ENSP00000492089.1:p.His96Arg | |
| ENST00000640322.1:c.227A>G | ENSP00000491564.1:p.His76Arg | |
| ENST00000640378.1:c.44A>G | ENSP00000492030.1:p.His15Arg | |
| ENST00000640418.1:c.368A>G | ENSP00000492098.1:p.His123Arg | |
| ENST00000640425.1:c.294A>G | ||
| ENST00000640572.1:c.294A>G | ||
| ENST00000640594.1:c.*354A>G | ENSP00000491356.1:n.*354A>G | |
| ENST00000640763.1:c.30A>G | ||
| ENST00000640835.1:c.193A>G | ||
| ENST00000640849.1:c.206A>G | ENSP00000491701.1:p.His69Arg | |
| ENST00000640903.1:c.397A>G | ||
| ENST00000640982.1:c.227A>G | ENSP00000492299.1:p.His76Arg | |
| ENST00000640992.1:c.227A>G | ENSP00000492753.1:p.His76Arg | |
| ENST00000306262.9:c.311A>G | ENSP00000306247.5:p.His104Arg | |
| ENST00000377332.7:c.311A>G | ENSP00000366549.3:p.His104Arg | |
| ENST00000393805.5:c.227A>G | ENSP00000377394.1:p.His76Arg | |
| ENST00000393808.7:c.242A>G | ENSP00000377397.3:p.His81Arg | |
| ENST00000433665.5:c.*354A>G | ENSP00000408635.1:n.*354A>G | |
| ENST00000455892.1:c.227A>G | ENSP00000401375.1:p.His76Arg | |
| ENST00000461199.5:n.316A>G | ||
| ENST00000461892.5:n.314A>G | ||
| ENST00000473122.5:n.283A>G | ||
| ENST00000484728.5:n.317A>G | ||
| NM_001042437.1:c.242A>G | NP_001035902.1:p.His81Arg | |
| NM_003896.3:c.311A>G | NP_003887.3:p.His104Arg | |
| XM_005264630.3:c.311A>G | XP_005264687.1:p.His104Arg | |
| XM_011533143.1:c.-251A>G | XP_011531445.1:n.-251A>G | |
| XR_939734.1:n.396A>G | ||
| XR_939735.1:n.396A>G | ||
| XR_939736.1:n.396A>G | ||
| NM_001354223.1:c.-251A>G | NP_001341152.1:n.-251A>G | |
| NM_001354224.1:c.-314A>G | NP_001341153.1:n.-314A>G | |
| NM_001354226.1:c.-251A>G | NP_001341155.1:n.-251A>G | |
| NM_001354227.1:c.227A>G | NP_001341156.1:p.His76Arg | |
| NM_001354229.1:c.227A>G | NP_001341158.1:p.His76Arg | |
| NM_001354233.1:c.-691A>G | NP_001341162.1:n.-691A>G | |
| NM_001354234.1:c.-655A>G | NP_001341163.1:n.-655A>G | |
| NM_001354238.1:c.227A>G | NP_001341167.1:p.His76Arg | |
| NM_001363847.1:c.311A>G | NP_001350776.1:p.His104Arg | |
| XM_017005202.2:c.227A>G | XP_016860691.1:p.His76Arg | |
| XM_017005203.2:c.-754A>G | XP_016860692.1:n.-754A>G | |
| XM_017005204.2:c.-754A>G | XP_016860693.1:n.-754A>G | |
| XM_017005205.2:c.-746A>G | XP_016860694.1:n.-746A>G | |
| XM_017005206.2:c.-655A>G | XP_016860695.1:n.-655A>G | |
| XM_017005208.2:c.-655A>G | XP_016860697.1:n.-655A>G | |
| XM_017005209.1:c.-306A>G | XP_016860698.1:n.-306A>G | |
| XM_017005212.2:c.-215A>G | XP_016860701.1:n.-215A>G | |
| XM_017005214.2:c.-251A>G | XP_016860703.1:n.-251A>G | |
| XR_001739019.1:n.396A>G | ||
| XR_001739020.1:n.396A>G | ||
| XR_001739021.1:n.396A>G | ||
| NM_003896.4:c.311A>G MANE Select | NP_003887.3:p.His104Arg | |
| NM_001042437.2:c.242A>G | NP_001035902.1:p.His81Arg | |
| NM_001354223.2:c.-251A>G | NP_001341152.1:n.-251A>G | |
| NM_001354224.2:c.-314A>G | NP_001341153.1:n.-314A>G | |
| NM_001354226.2:c.-251A>G | NP_001341155.1:n.-251A>G | |
| NM_001354227.2:c.227A>G | NP_001341156.1:p.His76Arg | |
| NM_001354229.2:c.227A>G | NP_001341158.1:p.His76Arg | |
| NM_001354233.2:c.-691A>G | NP_001341162.1:n.-691A>G |