Revel Score:
ENST00000262464 (MANE Select)
0.812
ENST00000508053
0.812
ENST00000507835
0.812
ENST00000508989
0.812
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128335547C>T , CM000667.2:g.128335547C>T | GRCh38 |
| NC_000005.9:g.127671239C>T , CM000667.1:g.127671239C>T | GRCh37 |
| NC_000005.8:g.127699138C>T | NCBI36 |
| NG_008750.1:g.207497G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.539G>A | ||
| ENST00000703785.1:n.620G>A | ||
| ENST00000262464.9:c.3755G>A MANE Select | ENSP00000262464.4:p.Gly1252Asp | |
| ENST00000262464.8:c.3755G>A | ENSP00000262464.4:p.Gly1252Asp | |
| ENST00000507835.5:c.305G>A | ENSP00000426839.1:p.Gly102Asp | |
| ENST00000508053.5:c.3755G>A | ENSP00000424571.1:p.Gly1252Asp | |
| ENST00000508989.5:c.3656G>A | ENSP00000425596.1:p.Gly1219Asp | |
| ENST00000619499.4:c.3752G>A | ENSP00000482132.1:p.Gly1251Asp | |
| NM_001999.3:c.3755G>A | NP_001990.2:p.Gly1252Asp | |
| XM_017009228.2:c.3602G>A | XP_016864717.1:p.Gly1201Asp | |
| NM_001999.4:c.3755G>A MANE Select | NP_001990.2:p.Gly1252Asp |