Revel Score:
ENST00000311895 (MANE Select)
0.183
ENST00000389138
0.183
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13948226C>G , CM000678.2:g.13948226C>G | GRCh38 |
| NC_000016.9:g.14042083C>G , CM000678.1:g.14042083C>G | GRCh37 |
| NC_000016.8:g.13949584C>G | NCBI36 |
| NG_011442.1:g.33070C>G , LRG_463:g.33070C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682617.1:c.2768C>G | ENSP00000507912.1:p.Ala923Gly | |
| ENST00000683962.1:c.*2324C>G | ENSP00000506854.1:n.*2324C>G | |
| ENST00000311895.8:c.2630C>G MANE Select | ENSP00000310520.7:p.Ala877Gly | |
| ENST00000311895.7:c.2630C>G | ENSP00000310520.7:p.Ala877Gly | |
| ENST00000389138.7:n.1907C>G | ||
| NM_005236.2:c.2630C>G , LRG_463t1:c.2630C>G | NP_005227.1:p.Ala877Gly | |
| XM_011522424.1:c.2768C>G | XP_011520726.1:p.Ala923Gly | |
| XM_011522425.1:c.2087C>G | XP_011520727.1:p.Ala696Gly | |
| XM_011522426.1:c.1841C>G | XP_011520728.1:p.Ala614Gly | |
| XM_011522427.1:c.1280C>G | XP_011520729.1:p.Ala427Gly | |
| XR_932805.1:n.2789C>G | ||
| XM_011522424.3:c.2768C>G | XP_011520726.1:p.Ala923Gly | |
| XM_017023043.2:c.1841C>G | XP_016878532.1:p.Ala614Gly | |
| NM_005236.3:c.2630C>G MANE Select | NP_005227.1:p.Ala877Gly |