Revel Score:
ENST00000380059
0.885
ENST00000380056
0.885
ENST00000539553
0.885
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000365 (SAS)
Exomes Max Group AF
0.00000385 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3228684C>T , CM000682.2:g.3228684C>T | GRCh38 |
| NC_000020.10:g.3209330C>T , CM000682.1:g.3209330C>T | GRCh37 |
| NC_000020.9:g.3157330C>T | NCBI36 |
| NG_017072.1:g.15558G>A | |
| NG_012093.2:g.24818C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642402.1:c.2216G>A MANE Select | ENSP00000493503.1:p.Arg739Gln | |
| ENST00000644011.1:c.2147G>A | ENSP00000496214.1:p.Arg716Gln | |
| ENST00000644692.1:c.2087G>A | ENSP00000493824.1:p.Arg696Gln | |
| ENST00000647296.1:c.2102G>A | ENSP00000495050.1:p.Arg701Gln | |
| ENST00000380056.7:c.2264G>A | ENSP00000369396.3:p.Arg755Gln | |
| ENST00000380059.7:c.2345G>A | ENSP00000369399.3:p.Arg782Gln | |
| ENST00000474451.5:c.*364G>A | ENSP00000476859.1:n.*364G>A | |
| ENST00000539553.6:c.2216G>A | ENSP00000441370.1:p.Arg739Gln | |
| NM_001174089.1:c.2216G>A | NP_001167560.1:p.Arg739Gln | |
| NM_001174090.1:c.2345G>A | NP_001167561.1:p.Arg782Gln | |
| NM_032034.3:c.2264G>A | NP_114423.1:p.Arg755Gln | |
| XM_005260856.3:c.2585G>A | XP_005260913.1:p.Arg862Gln | |
| XM_005260857.1:c.2159G>A | XP_005260914.1:p.Arg720Gln | |
| XM_011529383.1:c.2183G>A | XP_011527685.1:p.Arg728Gln | |
| XM_011529384.1:c.2159G>A | XP_011527686.1:p.Arg720Gln | |
| XM_011529385.1:c.2159G>A | XP_011527687.1:p.Arg720Gln | |
| XR_937167.1:n.2314G>A | ||
| NM_001363745.1:c.2102G>A | NP_001350674.1:p.Arg701Gln | |
| NR_135000.1:n.2314G>A | ||
| XM_005260856.5:c.2585G>A | XP_005260913.1:p.Arg862Gln | |
| XM_011529383.3:c.2183G>A | XP_011527685.1:p.Arg728Gln | |
| XM_017028093.1:c.2579G>A | XP_016883582.1:p.Arg860Gln | |
| XM_017028094.1:c.2159G>A | XP_016883583.1:p.Arg720Gln | |
| XM_017028096.1:c.2159G>A | XP_016883585.1:p.Arg720Gln | |
| XR_001754419.1:n.2759G>A | ||
| XR_001754420.2:n.2739G>A | ||
| NM_001174089.2:c.2216G>A MANE Select | NP_001167560.1:p.Arg739Gln | |
| NM_001363745.2:c.2102G>A | NP_001350674.1:p.Arg701Gln | |
| NM_001174090.2:c.2345G>A | NP_001167561.1:p.Arg782Gln | |
| NM_032034.4:c.2264G>A | NP_114423.1:p.Arg755Gln | |
| NM_001400277.1:c.2159G>A | NP_001387206.1:p.Arg720Gln | |
| NM_001400278.1:c.2159G>A | NP_001387207.1:p.Arg720Gln | |
| NM_001400279.1:c.2159G>A | NP_001387208.1:p.Arg720Gln | |
| NM_001400280.1:c.2231G>A | NP_001387209.1:p.Arg744Gln | |
| NR_174470.1:n.2739G>A | ||
| NR_174471.1:n.2724G>A |