Revel Score:
ENST00000260943
0.218
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00608491 (EAS)
Genomes Max Group AF
0.0070007 (EAS)
Exomes Max Group AF
0.00575453 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.211705339G>T , CM000664.2:g.211705339G>T | GRCh38 |
| NC_000002.11:g.212570064G>T , CM000664.1:g.212570064G>T | GRCh37 |
| NC_000002.10:g.212278309G>T | NCBI36 |
| NG_011805.1:g.838289C>A | |
| NG_011805.2:g.838290C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260943.11:c.1177C>A | ENSP00000260943.7:p.Arg393= | |
| ENST00000342788.9:c.1177C>A MANE Select | ENSP00000342235.4:p.Arg393= | |
| ENST00000402597.6:c.1099C>A | ENSP00000385565.3:p.Arg367= | |
| ENST00000260943.10:c.1176C>A | ||
| ENST00000342788.8:c.1177C>A | ENSP00000342235.4:p.Arg393= | |
| ENST00000402597.5:c.1000C>A | ENSP00000385565.2:p.Arg334= | |
| ENST00000436443.5:c.1177C>A | ENSP00000403204.1:p.Arg393= | |
| ENST00000484594.5:n.1229C>A | ||
| NM_001042599.1:c.1177C>A | NP_001036064.1:p.Arg393= | |
| NM_005235.2:c.1177C>A | NP_005226.1:p.Arg393= | |
| XM_005246375.1:c.1177C>A | XP_005246432.1:p.Arg393= | |
| XM_005246376.1:c.1177C>A | XP_005246433.1:p.Arg393= | |
| XM_005246377.1:c.1177C>A | XP_005246434.1:p.Arg393= | |
| XM_006712364.1:c.1177C>A | XP_006712427.1:p.Arg393= | |
| XM_005246376.3:c.1177C>A | XP_005246433.1:p.Arg393= | |
| XM_005246377.3:c.1177C>A | XP_005246434.1:p.Arg393= | |
| XM_006712364.3:c.1177C>A | XP_006712427.1:p.Arg393= | |
| XM_017003577.2:c.1255C>A | XP_016859066.1:p.Arg419= | |
| XM_017003578.2:c.1255C>A | XP_016859067.1:p.Arg419= | |
| XM_017003579.2:c.1255C>A | XP_016859068.1:p.Arg419= | |
| XM_017003580.2:c.1255C>A | XP_016859069.1:p.Arg419= | |
| XM_017003581.2:c.1255C>A | XP_016859070.1:p.Arg419= | |
| XM_017003582.1:c.556C>A | XP_016859071.1:p.Arg186= | |
| NM_005235.3:c.1177C>A MANE Select | NP_005226.1:p.Arg393= |