Revel Score:
ENST00000380059
0.896
ENST00000380056
0.896
ENST00000539553
0.896
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001746 (AFR)
Genomes Max Group AF
0.00001972 (NFE)
Exomes Max Group AF
0.00000989 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3228687G>A , CM000682.2:g.3228687G>A | GRCh38 |
| NC_000020.10:g.3209333G>A , CM000682.1:g.3209333G>A | GRCh37 |
| NC_000020.9:g.3157333G>A | NCBI36 |
| NG_017072.1:g.15555C>T | |
| NG_012093.2:g.24821G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642402.1:c.2213C>T MANE Select | ENSP00000493503.1:p.Thr738Met | |
| ENST00000644011.1:c.2144C>T | ENSP00000496214.1:p.Thr715Met | |
| ENST00000644692.1:c.2084C>T | ENSP00000493824.1:p.Thr695Met | |
| ENST00000647296.1:c.2099C>T | ENSP00000495050.1:p.Thr700Met | |
| ENST00000380056.7:c.2261C>T | ENSP00000369396.3:p.Thr754Met | |
| ENST00000380059.7:c.2342C>T | ENSP00000369399.3:p.Thr781Met | |
| ENST00000474451.5:c.*361C>T | ENSP00000476859.1:n.*361C>T | |
| ENST00000539553.6:c.2213C>T | ENSP00000441370.1:p.Thr738Met | |
| NM_001174089.1:c.2213C>T | NP_001167560.1:p.Thr738Met | |
| NM_001174090.1:c.2342C>T | NP_001167561.1:p.Thr781Met | |
| NM_032034.3:c.2261C>T | NP_114423.1:p.Thr754Met | |
| XM_005260856.3:c.2582C>T | XP_005260913.1:p.Thr861Met | |
| XM_005260857.1:c.2156C>T | XP_005260914.1:p.Thr719Met | |
| XM_011529383.1:c.2180C>T | XP_011527685.1:p.Thr727Met | |
| XM_011529384.1:c.2156C>T | XP_011527686.1:p.Thr719Met | |
| XM_011529385.1:c.2156C>T | XP_011527687.1:p.Thr719Met | |
| XR_937167.1:n.2311C>T | ||
| NM_001363745.1:c.2099C>T | NP_001350674.1:p.Thr700Met | |
| NR_135000.1:n.2311C>T | ||
| XM_005260856.5:c.2582C>T | XP_005260913.1:p.Thr861Met | |
| XM_011529383.3:c.2180C>T | XP_011527685.1:p.Thr727Met | |
| XM_017028093.1:c.2576C>T | XP_016883582.1:p.Thr859Met | |
| XM_017028094.1:c.2156C>T | XP_016883583.1:p.Thr719Met | |
| XM_017028096.1:c.2156C>T | XP_016883585.1:p.Thr719Met | |
| XR_001754419.1:n.2756C>T | ||
| XR_001754420.2:n.2736C>T | ||
| NM_001174089.2:c.2213C>T MANE Select | NP_001167560.1:p.Thr738Met | |
| NM_001363745.2:c.2099C>T | NP_001350674.1:p.Thr700Met | |
| NM_001174090.2:c.2342C>T | NP_001167561.1:p.Thr781Met | |
| NM_032034.4:c.2261C>T | NP_114423.1:p.Thr754Met | |
| NM_001400277.1:c.2156C>T | NP_001387206.1:p.Thr719Met | |
| NM_001400278.1:c.2156C>T | NP_001387207.1:p.Thr719Met | |
| NM_001400279.1:c.2156C>T | NP_001387208.1:p.Thr719Met | |
| NM_001400280.1:c.2228C>T | NP_001387209.1:p.Thr743Met | |
| NR_174470.1:n.2736C>T | ||
| NR_174471.1:n.2721C>T |