Revel Score:
ENST00000366574 (MANE Select)
0.896
ENST00000360064
0.896
ENST00000542537
0.896
ENST00000542288
0.896
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.237783714A>G , CM000663.2:g.237783714A>G | GRCh38 |
| NC_000001.10:g.237947014A>G , CM000663.1:g.237947014A>G | GRCh37 |
| NC_000001.9:g.236013637A>G | NCBI36 |
| NG_008799.2:g.746313A>G | |
| NG_008799.3:g.746531A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609119.2:c.*3094A>G | ENSP00000499659.2:n.*3094A>G | |
| ENST00000659194.3:c.11990A>G | ENSP00000499653.3:p.Asp3997Gly | |
| ENST00000660292.2:c.12023A>G | ENSP00000499787.2:p.Asp4008Gly | |
| ENST00000659194.2:c.4179A>G | ||
| ENST00000366574.7:c.12002A>G MANE Select | ENSP00000355533.2:p.Asp4001Gly | |
| ENST00000659194.1:c.4179A>G | ||
| ENST00000660292.1:c.2055A>G | ||
| ENST00000360064.7:c.11954A>G | ENSP00000353174.7:p.Asp3985Gly | |
| ENST00000366574.6:c.12002A>G | ENSP00000355533.2:p.Asp4001Gly | |
| ENST00000609119.1:n.3197A>G | ||
| NM_001035.2:c.12002A>G | NP_001026.2:p.Asp4001Gly | |
| XM_006711802.2:c.12056A>G | XP_006711865.1:p.Asp4019Gly | |
| XM_006711803.2:c.12053A>G | XP_006711866.1:p.Asp4018Gly | |
| XM_006711804.2:c.12032A>G | XP_006711867.1:p.Asp4011Gly | |
| XM_006711805.2:c.12026A>G | XP_006711868.1:p.Asp4009Gly | |
| XM_006711806.2:c.12020A>G | XP_006711869.1:p.Asp4007Gly | |
| XM_006711807.2:c.11996A>G | XP_006711870.1:p.Asp3999Gly | |
| XM_006711808.2:c.11819A>G | XP_006711871.1:p.Asp3940Gly | |
| XM_006711810.2:c.11963A>G | XP_006711873.1:p.Asp3988Gly | |
| XM_006711802.3:c.12056A>G | XP_006711865.1:p.Asp4019Gly | |
| XM_006711803.3:c.12053A>G | XP_006711866.1:p.Asp4018Gly | |
| XM_006711804.3:c.12032A>G | XP_006711867.1:p.Asp4011Gly | |
| XM_006711805.3:c.12026A>G | XP_006711868.1:p.Asp4009Gly | |
| XM_006711806.3:c.12020A>G | XP_006711869.1:p.Asp4007Gly | |
| XM_006711807.3:c.11996A>G | XP_006711870.1:p.Asp3999Gly | |
| XM_006711808.3:c.11819A>G | XP_006711871.1:p.Asp3940Gly | |
| XM_006711810.3:c.11963A>G | XP_006711873.1:p.Asp3988Gly | |
| XM_017002028.1:c.12035A>G | XP_016857517.1:p.Asp4012Gly | |
| NM_001035.3:c.12002A>G MANE Select | NP_001026.2:p.Asp4001Gly |