Revel Score:
ENST00000489711 (MANE Select)
0.020
ENST00000542599
0.020
ENST00000295605
0.020
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.121940930C>G , CM000665.2:g.121940930C>G | GRCh38 |
| NC_000003.11:g.121659777C>G , CM000665.1:g.121659777C>G | GRCh37 |
| NC_000003.10:g.123142467C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000489711.6:c.2113C>G MANE Select | ENSP00000417085.1:p.Arg705Gly | |
| ENST00000295605.6:c.2020C>G | ENSP00000295605.2:p.Arg674Gly | |
| ENST00000469422.1:n.510C>G | ||
| ENST00000489711.5:c.2113C>G | ENSP00000417085.1:p.Arg705Gly | |
| NM_001145998.1:c.2020C>G | NP_001139470.1:p.Arg674Gly | |
| NM_021082.3:c.2113C>G | NP_066568.3:p.Arg705Gly | |
| XM_005247722.2:c.2008C>G | XP_005247779.1:p.Arg670Gly | |
| XM_005247722.3:c.2008C>G | XP_005247779.1:p.Arg670Gly | |
| NM_021082.4:c.2113C>G MANE Select | NP_066568.3:p.Arg705Gly | |
| NM_001145998.2:c.2020C>G | NP_001139470.1:p.Arg674Gly |