Revel Score:
ENST00000377869
0.923
ENST00000543313
0.923
ENST00000220616 (MANE Select)
0.923
ENST00000542445
0.923
ENST00000519543
0.923
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000247 (NFE)
Exomes Max Group AF
0.00000262 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.133022121G>A , CM000670.2:g.133022121G>A | GRCh38 |
| NC_000008.10:g.134034366G>A , CM000670.1:g.134034366G>A | GRCh37 |
| NC_000008.9:g.134103548G>A | NCBI36 |
| NG_015832.1:g.160162G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220616.9:c.7007G>A MANE Select | ENSP00000220616.4:p.Arg2336Gln | |
| ENST00000220616.8:c.7007G>A | ENSP00000220616.4:p.Arg2336Gln | |
| ENST00000518108.1:c.393G>A | ||
| ENST00000519178.5:c.2373G>A | ||
| ENST00000519543.5:c.1406G>A | ENSP00000430430.1:p.Arg469Gln | |
| ENST00000523756.5:c.3662G>A | ||
| NM_003235.4:c.7007G>A | NP_003226.4:p.Arg2336Gln | |
| XM_005251038.3:c.6815G>A | XP_005251095.1:p.Arg2272Gln | |
| XM_006716622.2:c.6944G>A | XP_006716685.1:p.Arg2315Gln | |
| XM_005251038.4:c.6815G>A | XP_005251095.1:p.Arg2272Gln | |
| XM_006716622.3:c.6944G>A | XP_006716685.1:p.Arg2315Gln | |
| XM_017013793.1:c.6941G>A | XP_016869282.1:p.Arg2314Gln | |
| XM_017013794.1:c.7007G>A | XP_016869283.1:p.Arg2336Gln | |
| XM_017013795.1:c.6836G>A | XP_016869284.1:p.Arg2279Gln | |
| XM_017013796.1:c.6788G>A | XP_016869285.1:p.Arg2263Gln | |
| XM_017013797.1:c.6746G>A | XP_016869286.1:p.Arg2249Gln | |
| XM_017013798.1:c.7007G>A | XP_016869287.1:p.Arg2336Gln | |
| NM_003235.5:c.7007G>A MANE Select | NP_003226.4:p.Arg2336Gln |