Revel Score:
ENST00000369321
0.146
ENST00000345633
0.146
ENST00000369318 (MANE Select)
0.146
ENST00000442393
0.146
ENST00000369315
0.146
ENST00000452490
0.146
ENST00000369331
0.094
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.43777752 (EAS)
Genomes Max Group AF
0.40586991 (EAS)
Exomes Max Group AF
0.44033949 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.113729393C>G , CM000672.2:g.113729393C>G | GRCh38 |
| NC_000010.10:g.115489152C>G , CM000672.1:g.115489152C>G | GRCh37 |
| NC_000010.9:g.115479142C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369318.8:c.765C>G MANE Select | ENSP00000358324.4:p.Asp255Glu | |
| ENST00000672138.1:c.762C>G | ENSP00000500735.1:p.Asp254Glu | |
| ENST00000345633.8:c.765C>G | ENSP00000298701.7:p.Asp255Glu | |
| ENST00000369315.5:c.765C>G | ENSP00000358321.1:p.Asp255Glu | |
| ENST00000369318.7:c.765C>G | ENSP00000358324.3:p.Asp255Glu | |
| ENST00000369321.6:c.1020C>G | ENSP00000358327.3:p.Asp340Glu | |
| ENST00000369331.8:c.731C>G | ENSP00000358337.3:p.Thr244Ser | |
| ENST00000452490.3:c.690C>G | ENSP00000398107.2:p.Asp230Glu | |
| ENST00000487232.1:n.689C>G | ||
| ENST00000614447.4:c.731C>G | ENSP00000478285.1:p.Thr244Ser | |
| ENST00000621345.4:c.765C>G | ENSP00000480584.1:p.Asp255Glu | |
| ENST00000621607.4:c.864C>G | ENSP00000478999.1:p.Asp288Glu | |
| NM_001227.4:c.765C>G | NP_001218.1:p.Asp255Glu | |
| NM_001267056.1:c.765C>G | NP_001253985.1:p.Asp255Glu | |
| NM_001267057.1:c.1020C>G | NP_001253986.1:p.Asp340Glu | |
| NM_001267058.1:c.690C>G | NP_001253987.1:p.Asp230Glu | |
| NM_033338.5:c.864C>G | NP_203124.1:p.Asp288Glu | |
| NM_033339.4:c.765C>G | NP_203125.1:p.Asp255Glu | |
| NM_033340.3:c.731C>G | NP_203126.1:p.Thr244Ser | |
| XM_006718017.2:c.807C>G | XP_006718080.1:p.Asp269Glu | |
| XM_006718018.1:c.789C>G | XP_006718081.1:p.Asp263Glu | |
| XM_011540259.1:c.864C>G | XP_011538561.1:p.Asp288Glu | |
| XM_011540260.1:c.666C>G | XP_011538562.1:p.Asp222Glu | |
| NM_001320911.1:c.789C>G | NP_001307840.1:p.Asp263Glu | |
| XM_006718017.3:c.807C>G | XP_006718080.1:p.Asp269Glu | |
| XM_017016763.1:c.822C>G | XP_016872252.1:p.Asp274Glu | |
| XM_017016764.1:c.789C>G | XP_016872253.1:p.Asp263Glu | |
| NM_001227.5:c.765C>G MANE Select | NP_001218.1:p.Asp255Glu | |
| NM_001320911.2:c.789C>G | NP_001307840.1:p.Asp263Glu | |
| NM_033338.6:c.864C>G | NP_203124.1:p.Asp288Glu | |
| NM_033339.5:c.765C>G | NP_203125.1:p.Asp255Glu | |
| NM_033340.4:c.731C>G | NP_203126.1:p.Thr244Ser | |
| NM_001267056.2:c.765C>G | NP_001253985.1:p.Asp255Glu | |
| NM_001267058.2:c.690C>G | NP_001253987.1:p.Asp230Glu |