Revel Score:
ENST00000230771 (MANE Select)
0.613
ENST00000435019
0.613
ENST00000437649
0.613
ENST00000432671
0.613
ENST00000508522
0.613
gnomAD v2:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140696110A>G , CM000667.2:g.140696110A>G | GRCh38 |
| NC_000005.9:g.140075695A>G , CM000667.1:g.140075695A>G | GRCh37 |
| NC_000005.8:g.140055879A>G | NCBI36 |
| NG_021415.1:g.9678A>G | |
| NG_032158.1:g.277T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230771.9:c.641A>G MANE Select | ENSP00000230771.3:p.Asp214Gly | |
| ENST00000503873.6:c.411+265A>G | ENSP00000424516.2:n.411+265A>G | |
| ENST00000509299.6:c.431A>G | ENSP00000425695.2:p.Asp144Gly | |
| ENST00000520095.6:c.*219A>G | ENSP00000429220.1:n.*219A>G | |
| ENST00000642452.1:c.681A>G | ||
| ENST00000642752.1:c.633+265A>G | ENSP00000493630.1:n.633+265A>G | |
| ENST00000642970.1:c.431A>G | ENSP00000496011.1:p.Asp144Gly | |
| ENST00000643996.1:c.431A>G | ENSP00000495350.1:p.Asp144Gly | |
| ENST00000645065.1:c.659A>G | ENSP00000493571.1:p.Asp220Gly | |
| ENST00000645749.1:c.641A>G | ENSP00000494296.1:p.Asp214Gly | |
| ENST00000646468.1:c.659A>G | ENSP00000494965.1:p.Asp220Gly | |
| ENST00000647484.1:c.*22A>G | ENSP00000494140.1:n.*22A>G | |
| ENST00000230771.7:c.641A>G | ENSP00000230771.3:p.Asp214Gly | |
| ENST00000448069.2:c.216+265A>G | ENSP00000407105.2:n.216+265A>G | |
| ENST00000508522.5:c.566A>G | ENSP00000423616.1:p.Asp189Gly | |
| ENST00000510104.5:c.*698A>G | ENSP00000423530.1:n.*698A>G | |
| ENST00000513688.1:n.648A>G | ||
| NM_001278731.1:c.566A>G | NP_001265660.1:p.Asp189Gly | |
| NM_001278732.1:c.209A>G | NP_001265661.1:p.Asp70Gly | |
| NM_012208.3:c.641A>G | NP_036340.1:p.Asp214Gly | |
| XM_011537619.1:c.659A>G | XP_011535921.1:p.Asp220Gly | |
| XM_011537620.1:c.651+265A>G | XP_011535922.1:n.651+265A>G | |
| NM_001363535.1:c.659A>G | NP_001350464.1:p.Asp220Gly | |
| NM_001363536.1:c.431A>G | NP_001350465.1:p.Asp144Gly | |
| XM_017009288.1:c.431A>G | XP_016864777.1:p.Asp144Gly | |
| XM_017009289.1:c.431A>G | XP_016864778.1:p.Asp144Gly | |
| XM_017009290.2:c.-20A>G | XP_016864779.1:n.-20A>G | |
| XM_017009291.1:c.-20A>G | XP_016864780.1:n.-20A>G | |
| XM_017009292.1:c.-20A>G | XP_016864781.1:n.-20A>G | |
| NM_012208.4:c.641A>G MANE Select | NP_036340.1:p.Asp214Gly | |
| NM_001278731.2:c.566A>G | NP_001265660.1:p.Asp189Gly | |
| NM_001278732.2:c.209A>G | NP_001265661.1:p.Asp70Gly | |
| NM_001363535.2:c.659A>G | NP_001350464.1:p.Asp220Gly | |
| NM_001363536.2:c.431A>G | NP_001350465.1:p.Asp144Gly |