Revel Score:
ENST00000457854
0.879
ENST00000222214 (MANE Select)
0.879
ENST00000422947
0.879
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00001773 (EAS)
Exomes Max Group AF
0.00002004 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12897776C>G , CM000681.2:g.12897776C>G | GRCh38 |
| NC_000019.9:g.13008590C>G , CM000681.1:g.13008590C>G | GRCh37 |
| NC_000019.8:g.12869590C>G | NCBI36 |
| NG_009292.1:g.11617C>G | |
| NG_033049.1:g.26497G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222214.10:c.1156C>G MANE Select | ENSP00000222214.4:p.Arg386Gly | |
| ENST00000222214.9:c.1156C>G | ENSP00000222214.4:p.Arg386Gly | |
| ENST00000585420.5:n.1486C>G | ||
| ENST00000590472.5:c.200C>G | ||
| ENST00000590530.5:c.*596C>G | ENSP00000468452.1:n.*596C>G | |
| ENST00000591043.1:n.1466C>G | ||
| ENST00000591050.1:c.123C>G | ||
| ENST00000591470.5:c.1156C>G | ENSP00000466845.1:p.Arg386Gly | |
| NM_000159.3:c.1156C>G | NP_000150.1:p.Arg386Gly | |
| NM_013976.3:c.1156C>G | NP_039663.1:p.Arg386Gly | |
| NR_102316.1:n.1319C>G | ||
| NR_102317.1:n.1537C>G | ||
| XM_006722721.2:c.1156C>G | XP_006722784.1:p.Arg386Gly | |
| XM_011527899.1:c.1156C>G | XP_011526201.1:p.Arg386Gly | |
| XM_011527900.1:c.1156C>G | XP_011526202.1:p.Arg386Gly | |
| XM_011527899.2:c.1156C>G | XP_011526201.1:p.Arg386Gly | |
| XM_011527900.2:c.1156C>G | XP_011526202.1:p.Arg386Gly | |
| XM_017026580.1:c.1156C>G | XP_016882069.1:p.Arg386Gly | |
| NM_000159.4:c.1156C>G MANE Select | NP_000150.1:p.Arg386Gly | |
| NM_013976.4:c.1156C>G | NP_039663.1:p.Arg386Gly | |
| NM_013976.5:c.1156C>G | NP_039663.1:p.Arg386Gly |