Revel Score:
ENST00000380059
0.644
ENST00000380056
0.644
ENST00000539553
0.644
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000554 (AMR)
Exomes Max Group AF
0.00000743 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3230954C>T , CM000682.2:g.3230954C>T | GRCh38 |
| NC_000020.10:g.3211600C>T , CM000682.1:g.3211600C>T | GRCh37 |
| NC_000020.9:g.3159600C>T | NCBI36 |
| NG_017072.1:g.13288G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642402.1:c.1147G>A MANE Select | ENSP00000493503.1:p.Glu383Lys | |
| ENST00000644011.1:c.1078G>A | ENSP00000496214.1:p.Glu360Lys | |
| ENST00000644692.1:c.1018G>A | ENSP00000493824.1:p.Glu340Lys | |
| ENST00000647296.1:c.1147G>A | ENSP00000495050.1:p.Glu383Lys | |
| ENST00000380056.7:c.1195G>A | ENSP00000369396.3:p.Glu399Lys | |
| ENST00000380059.7:c.1276G>A | ENSP00000369399.3:p.Glu426Lys | |
| ENST00000474451.5:c.1090G>A | ENSP00000476859.1:p.Glu364Lys | |
| ENST00000539553.6:c.1147G>A | ENSP00000441370.1:p.Glu383Lys | |
| NM_001174089.1:c.1147G>A | NP_001167560.1:p.Glu383Lys | |
| NM_001174090.1:c.1276G>A | NP_001167561.1:p.Glu426Lys | |
| NM_032034.3:c.1195G>A | NP_114423.1:p.Glu399Lys | |
| XM_005260856.3:c.1630G>A | XP_005260913.1:p.Glu544Lys | |
| XM_005260857.1:c.1090G>A | XP_005260914.1:p.Glu364Lys | |
| XM_011529383.1:c.1114G>A | XP_011527685.1:p.Glu372Lys | |
| XM_011529384.1:c.1090G>A | XP_011527686.1:p.Glu364Lys | |
| XM_011529385.1:c.1090G>A | XP_011527687.1:p.Glu364Lys | |
| XM_011529386.1:c.1630G>A | XP_011527688.1:p.Glu544Lys | |
| XR_937167.1:n.1315G>A | ||
| NM_001363745.1:c.1147G>A | NP_001350674.1:p.Glu383Lys | |
| NR_135000.1:n.1315G>A | ||
| XM_005260856.5:c.1630G>A | XP_005260913.1:p.Glu544Lys | |
| XM_011529383.3:c.1114G>A | XP_011527685.1:p.Glu372Lys | |
| XM_017028093.1:c.1630G>A | XP_016883582.1:p.Glu544Lys | |
| XM_017028094.1:c.1090G>A | XP_016883583.1:p.Glu364Lys | |
| XM_017028096.1:c.1090G>A | XP_016883585.1:p.Glu364Lys | |
| XM_017028097.1:c.1630G>A | XP_016883586.1:p.Glu544Lys | |
| XR_001754419.1:n.1740G>A | ||
| XR_001754420.2:n.1740G>A | ||
| NM_001174089.2:c.1147G>A MANE Select | NP_001167560.1:p.Glu383Lys | |
| NM_001363745.2:c.1147G>A | NP_001350674.1:p.Glu383Lys | |
| NM_001174090.2:c.1276G>A | NP_001167561.1:p.Glu426Lys | |
| NM_032034.4:c.1195G>A | NP_114423.1:p.Glu399Lys | |
| NM_001400277.1:c.1090G>A | NP_001387206.1:p.Glu364Lys | |
| NM_001400278.1:c.1090G>A | NP_001387207.1:p.Glu364Lys | |
| NM_001400279.1:c.1090G>A | NP_001387208.1:p.Glu364Lys | |
| NM_001400280.1:c.1276G>A | NP_001387209.1:p.Glu426Lys | |
| NR_174470.1:n.1705G>A | ||
| NR_174471.1:n.1705G>A |