Revel Score:
ENST00000380059
0.913
ENST00000380056
0.913
ENST00000539553
0.913
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3228684C>A , CM000682.2:g.3228684C>A | GRCh38 |
| NC_000020.10:g.3209330C>A , CM000682.1:g.3209330C>A | GRCh37 |
| NC_000020.9:g.3157330C>A | NCBI36 |
| NG_017072.1:g.15558G>T | |
| NG_012093.2:g.24818C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642402.1:c.2216G>T MANE Select | ENSP00000493503.1:p.Arg739Leu | |
| ENST00000644011.1:c.2147G>T | ENSP00000496214.1:p.Arg716Leu | |
| ENST00000644692.1:c.2087G>T | ENSP00000493824.1:p.Arg696Leu | |
| ENST00000647296.1:c.2102G>T | ENSP00000495050.1:p.Arg701Leu | |
| ENST00000380056.7:c.2264G>T | ENSP00000369396.3:p.Arg755Leu | |
| ENST00000380059.7:c.2345G>T | ENSP00000369399.3:p.Arg782Leu | |
| ENST00000474451.5:c.*364G>T | ENSP00000476859.1:n.*364G>T | |
| ENST00000539553.6:c.2216G>T | ENSP00000441370.1:p.Arg739Leu | |
| NM_001174089.1:c.2216G>T | NP_001167560.1:p.Arg739Leu | |
| NM_001174090.1:c.2345G>T | NP_001167561.1:p.Arg782Leu | |
| NM_032034.3:c.2264G>T | NP_114423.1:p.Arg755Leu | |
| XM_005260856.3:c.2585G>T | XP_005260913.1:p.Arg862Leu | |
| XM_005260857.1:c.2159G>T | XP_005260914.1:p.Arg720Leu | |
| XM_011529383.1:c.2183G>T | XP_011527685.1:p.Arg728Leu | |
| XM_011529384.1:c.2159G>T | XP_011527686.1:p.Arg720Leu | |
| XM_011529385.1:c.2159G>T | XP_011527687.1:p.Arg720Leu | |
| XR_937167.1:n.2314G>T | ||
| NM_001363745.1:c.2102G>T | NP_001350674.1:p.Arg701Leu | |
| NR_135000.1:n.2314G>T | ||
| XM_005260856.5:c.2585G>T | XP_005260913.1:p.Arg862Leu | |
| XM_011529383.3:c.2183G>T | XP_011527685.1:p.Arg728Leu | |
| XM_017028093.1:c.2579G>T | XP_016883582.1:p.Arg860Leu | |
| XM_017028094.1:c.2159G>T | XP_016883583.1:p.Arg720Leu | |
| XM_017028096.1:c.2159G>T | XP_016883585.1:p.Arg720Leu | |
| XR_001754419.1:n.2759G>T | ||
| XR_001754420.2:n.2739G>T | ||
| NM_001174089.2:c.2216G>T MANE Select | NP_001167560.1:p.Arg739Leu | |
| NM_001363745.2:c.2102G>T | NP_001350674.1:p.Arg701Leu | |
| NM_001174090.2:c.2345G>T | NP_001167561.1:p.Arg782Leu | |
| NM_032034.4:c.2264G>T | NP_114423.1:p.Arg755Leu | |
| NM_001400277.1:c.2159G>T | NP_001387206.1:p.Arg720Leu | |
| NM_001400278.1:c.2159G>T | NP_001387207.1:p.Arg720Leu | |
| NM_001400279.1:c.2159G>T | NP_001387208.1:p.Arg720Leu | |
| NM_001400280.1:c.2231G>T | NP_001387209.1:p.Arg744Leu | |
| NR_174470.1:n.2739G>T | ||
| NR_174471.1:n.2724G>T |