Revel Score:
ENST00000393808
0.033
ENST00000393805
0.033
ENST00000377332
0.033
ENST00000455892
0.033
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00013403 (MID)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00014138 (MID)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85848108C>T , CM000664.2:g.85848108C>T | GRCh38 |
| NC_000002.11:g.86075231C>T , CM000664.1:g.86075231C>T | GRCh37 |
| NC_000002.10:g.85928742C>T | NCBI36 |
| NG_012807.1:g.45927G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306262.10:c.*159G>A | ENSP00000306247.6:n.*159G>A | |
| ENST00000377332.8:c.319-24G>A | ENSP00000366549.4:n.319-24G>A | |
| ENST00000393805.6:c.331G>A | ENSP00000377394.1:p.Val111Met | |
| ENST00000393808.8:c.346G>A | ENSP00000377397.3:p.Val116Met | |
| ENST00000638178.1:c.331G>A | ENSP00000492103.1:p.Val111Met | |
| ENST00000638227.1:c.*458G>A | ENSP00000492602.1:n.*458G>A | |
| ENST00000638288.1:c.*579G>A | ENSP00000491699.1:n.*579G>A | |
| ENST00000638321.1:c.489G>A | ||
| ENST00000638484.1:c.*635G>A | ENSP00000492635.1:n.*635G>A | |
| ENST00000638523.1:c.1070G>A | ||
| ENST00000638542.1:c.303G>A | ENSP00000492468.1:p.Ala101= | |
| ENST00000638572.2:c.415G>A MANE Select | ENSP00000491316.1:p.Val139Met | |
| ENST00000638581.1:n.441G>A | ||
| ENST00000638659.1:c.505-24G>A | ||
| ENST00000638678.1:c.413G>A | ||
| ENST00000638855.1:c.303G>A | ENSP00000490979.1:p.Ala101= | |
| ENST00000638885.1:c.*253G>A | ENSP00000492209.1:n.*253G>A | |
| ENST00000638956.1:c.*687G>A | ENSP00000492097.1:n.*687G>A | |
| ENST00000638986.1:c.331G>A | ENSP00000491853.1:p.Val111Met | |
| ENST00000639074.1:n.2827G>A | ||
| ENST00000639119.1:c.415G>A | ENSP00000492045.1:p.Val139Met | |
| ENST00000639184.1:c.*579G>A | ENSP00000492305.1:n.*579G>A | |
| ENST00000639202.1:c.202-1545G>A | ENSP00000492710.1:n.202-1545G>A | |
| ENST00000639216.1:n.437G>A | ||
| ENST00000639305.1:c.413G>A | ||
| ENST00000639311.1:c.*205G>A | ENSP00000491398.1:n.*205G>A | |
| ENST00000639421.1:c.1183G>A | ENSP00000491029.1:n.1183G>A | |
| ENST00000639432.1:c.331G>A | ENSP00000491828.1:p.Val111Met | |
| ENST00000639519.1:c.801-24G>A | ENSP00000491857.1:n.801-24G>A | |
| ENST00000639541.1:c.*771G>A | ENSP00000492280.1:n.*771G>A | |
| ENST00000639608.1:c.*253G>A | ENSP00000492473.1:n.*253G>A | |
| ENST00000639690.1:c.1195G>A | ENSP00000491917.1:n.1195G>A | |
| ENST00000639743.1:n.4126G>A | ||
| ENST00000639820.1:c.*849G>A | ENSP00000491802.1:n.*849G>A | |
| ENST00000639867.1:n.2822G>A | ||
| ENST00000639945.1:c.*331G>A | ENSP00000492866.1:n.*331G>A | |
| ENST00000639981.1:c.902G>A | ||
| ENST00000640024.1:c.*579G>A | ENSP00000491238.1:n.*579G>A | |
| ENST00000640222.1:c.568G>A | ||
| ENST00000640295.1:c.779G>A | ENSP00000491027.1:n.779G>A | |
| ENST00000640314.1:c.482-24G>A | ENSP00000491315.1:n.482-24G>A | |
| ENST00000640315.1:c.391G>A | ENSP00000492089.1:p.Val131Met | |
| ENST00000640322.1:c.331G>A | ENSP00000491564.1:p.Val111Met | |
| ENST00000640378.1:c.729G>A | ENSP00000492030.1:n.729G>A | |
| ENST00000640418.1:c.472G>A | ENSP00000492098.1:p.Val158Met | |
| ENST00000640425.1:c.398G>A | ||
| ENST00000640453.1:n.2091G>A | ||
| ENST00000640572.1:c.390+8G>A | ||
| ENST00000640594.1:c.*458G>A | ENSP00000491356.1:n.*458G>A | |
| ENST00000640712.1:n.2763G>A | ||
| ENST00000640763.1:c.2764G>A | ||
| ENST00000640798.1:n.2030G>A | ||
| ENST00000640835.1:c.474G>A | ||
| ENST00000640849.1:c.451G>A | ENSP00000491701.1:n.451G>A | |
| ENST00000640903.1:c.501G>A | ||
| ENST00000640982.1:c.331G>A | ENSP00000492299.1:p.Val111Met | |
| ENST00000640992.1:c.331G>A | ENSP00000492753.1:p.Val111Met | |
| ENST00000306262.9:c.*253G>A | ENSP00000306247.5:n.*253G>A | |
| ENST00000377332.7:c.415G>A | ENSP00000366549.3:p.Val139Met | |
| ENST00000393805.5:c.331G>A | ENSP00000377394.1:p.Val111Met | |
| ENST00000393808.7:c.346G>A | ENSP00000377397.3:p.Val116Met | |
| ENST00000455892.1:c.331G>A | ENSP00000401375.1:p.Val111Met | |
| ENST00000461206.1:n.1469G>A | ||
| NM_001042437.1:c.346G>A | NP_001035902.1:p.Val116Met | |
| NM_003896.3:c.415G>A | NP_003887.3:p.Val139Met | |
| XM_005264630.3:c.415G>A | XP_005264687.1:p.Val139Met | |
| XM_011533143.1:c.31G>A | XP_011531445.1:p.Val11Met | |
| XR_939734.1:n.500G>A | ||
| NM_001354223.1:c.31G>A | NP_001341152.1:p.Val11Met | |
| NM_001354224.1:c.31G>A | NP_001341153.1:p.Val11Met | |
| NM_001354226.1:c.31G>A | NP_001341155.1:p.Val11Met | |
| NM_001354227.1:c.331G>A | NP_001341156.1:p.Val111Met | |
| NM_001354229.1:c.331G>A | NP_001341158.1:p.Val111Met | |
| NM_001354233.1:c.31G>A | NP_001341162.1:p.Val11Met | |
| NM_001354234.1:c.31G>A | NP_001341163.1:p.Val11Met | |
| NM_001354238.1:c.331G>A | NP_001341167.1:p.Val111Met | |
| NM_001354247.1:c.-490G>A | NP_001341176.1:n.-490G>A | |
| NM_001354248.1:c.31G>A | NP_001341177.1:p.Val11Met | |
| NM_001363847.1:c.415G>A | NP_001350776.1:p.Val139Met | |
| XM_017005202.2:c.331G>A | XP_016860691.1:p.Val111Met | |
| XM_017005203.2:c.31G>A | XP_016860692.1:p.Val11Met | |
| XM_017005204.2:c.31G>A | XP_016860693.1:p.Val11Met | |
| XM_017005205.2:c.31G>A | XP_016860694.1:p.Val11Met | |
| XM_017005206.2:c.31G>A | XP_016860695.1:p.Val11Met | |
| XM_017005208.2:c.31G>A | XP_016860697.1:p.Val11Met | |
| XM_017005209.1:c.31G>A | XP_016860698.1:p.Val11Met | |
| XM_017005212.2:c.31G>A | XP_016860701.1:p.Val11Met | |
| XM_017005213.2:c.31G>A | XP_016860702.1:p.Val11Met | |
| XM_017005214.2:c.31G>A | XP_016860703.1:p.Val11Met | |
| XR_001739019.1:n.500G>A | ||
| XR_001739020.1:n.1172G>A | ||
| XR_001739021.1:n.1349G>A | ||
| NM_003896.4:c.415G>A MANE Select | NP_003887.3:p.Val139Met | |
| NM_001042437.2:c.346G>A | NP_001035902.1:p.Val116Met | |
| NM_001354223.2:c.31G>A | NP_001341152.1:p.Val11Met | |
| NM_001354224.2:c.31G>A | NP_001341153.1:p.Val11Met | |
| NM_001354226.2:c.31G>A | NP_001341155.1:p.Val11Met | |
| NM_001354227.2:c.331G>A | NP_001341156.1:p.Val111Met | |
| NM_001354229.2:c.331G>A | NP_001341158.1:p.Val111Met | |
| NM_001354233.2:c.31G>A | NP_001341162.1:p.Val11Met |