Revel Score:
ENST00000215838 (MANE Select)
0.149
ENST00000405742
0.149
ENST00000407817
0.149
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00496177 (EAS)
Genomes Max Group AF
0.01010253 (EAS)
Exomes Max Group AF
0.00406301 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.30614430G>A , CM000684.2:g.30614430G>A | GRCh38 |
| NC_000022.10:g.31010417G>A , CM000684.1:g.31010417G>A | GRCh37 |
| NC_000022.9:g.29340417G>A | NCBI36 |
| NG_007263.1:g.12257G>A , LRG_116:g.12257G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000471659.2:n.1986G>A | ||
| ENST00000698263.1:c.509G>A | ENSP00000513635.1:p.Arg170Gln | |
| ENST00000698264.1:n.1986G>A | ||
| ENST00000698265.1:c.509G>A | ENSP00000513636.1:p.Arg170Gln | |
| ENST00000698266.1:c.509G>A | ENSP00000513637.1:p.Arg170Gln | |
| ENST00000698267.1:c.509G>A | ENSP00000513638.1:p.Arg170Gln | |
| ENST00000698268.1:c.509G>A | ENSP00000513639.1:p.Arg170Gln | |
| ENST00000698269.1:c.*75G>A | ENSP00000513640.1:n.*75G>A | |
| ENST00000698270.1:c.428-871G>A | ENSP00000513641.1:n.428-871G>A | |
| ENST00000698271.1:c.509G>A | ENSP00000513642.1:p.Arg170Gln | |
| ENST00000698272.1:c.509G>A | ENSP00000513643.1:p.Arg170Gln | |
| ENST00000698273.1:c.500G>A | ENSP00000513644.1:p.Arg167Gln | |
| ENST00000215838.8:c.509G>A MANE Select | ENSP00000215838.3:p.Arg170Gln | |
| ENST00000215838.7:c.509G>A | ENSP00000215838.3:p.Arg170Gln | |
| ENST00000405742.7:c.497G>A | ENSP00000385914.3:p.Arg166Gln | |
| ENST00000407817.3:c.428G>A | ENSP00000384914.3:p.Arg143Gln | |
| ENST00000450638.5:c.434G>A | ENSP00000394184.2:p.Arg145Gln | |
| NM_000355.3:c.509G>A | NP_000346.2:p.Arg170Gln | |
| NM_001184726.1:c.428G>A | NP_001171655.1:p.Arg143Gln | |
| NM_000355.4:c.509G>A MANE Select | NP_000346.2:p.Arg170Gln | |
| NM_001184726.2:c.428G>A | NP_001171655.1:p.Arg143Gln |