Revel Score:
ENST00000539907
0.940
ENST00000540617
0.940
ENST00000374840 (MANE Select)
0.940
ENST00000374832
0.940
ENST00000425315
0.940
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005798 (MID)
Exomes Max Group AF
0.00000652 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21573733G>A , CM000663.2:g.21573733G>A | GRCh38 |
| NC_000001.10:g.21900226G>A , CM000663.1:g.21900226G>A | GRCh37 |
| NC_000001.9:g.21772813G>A | NCBI36 |
| NG_008940.1:g.69369G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374840.8:c.931G>A MANE Select | ENSP00000363973.3:p.Glu311Lys | |
| ENST00000374830.2:c.73-2000G>A | ||
| ENST00000374832.5:c.931G>A | ENSP00000363965.1:p.Glu311Lys | |
| ENST00000374840.7:c.931G>A | ENSP00000363973.3:p.Glu311Lys | |
| ENST00000539907.5:c.700G>A | ENSP00000437674.1:p.Glu234Lys | |
| ENST00000540617.5:c.766G>A | ENSP00000442672.1:p.Glu256Lys | |
| NM_000478.4:c.931G>A | NP_000469.3:p.Glu311Lys | |
| NM_001127501.2:c.766G>A | NP_001120973.2:p.Glu256Lys | |
| NM_001177520.1:c.700G>A | NP_001170991.1:p.Glu234Lys | |
| XM_005245818.1:c.931G>A | XP_005245875.1:p.Glu311Lys | |
| XM_005245820.2:c.931G>A | XP_005245877.1:p.Glu311Lys | |
| XM_006710546.1:c.931G>A | XP_006710609.1:p.Glu311Lys | |
| NM_000478.5:c.931G>A | NP_000469.3:p.Glu311Lys | |
| NM_001127501.3:c.766G>A | NP_001120973.2:p.Glu256Lys | |
| NM_001177520.2:c.700G>A | NP_001170991.1:p.Glu234Lys | |
| XM_006710546.3:c.931G>A | XP_006710609.1:p.Glu311Lys | |
| XM_017000903.1:c.775G>A | XP_016856392.1:p.Glu259Lys | |
| NM_000478.6:c.931G>A MANE Select | NP_000469.3:p.Glu311Lys | |
| NM_001127501.4:c.766G>A | NP_001120973.2:p.Glu256Lys | |
| NM_001177520.3:c.700G>A | NP_001170991.1:p.Glu234Lys | |
| NM_001369803.2:c.931G>A | NP_001356732.1:p.Glu311Lys | |
| NM_001369804.2:c.931G>A | NP_001356733.1:p.Glu311Lys | |
| NM_001369805.2:c.931G>A | NP_001356734.1:p.Glu311Lys |