Revel Score:
ENST00000268261 (MANE Select)
0.766
ENST00000539622
0.766
ENST00000537352
0.766
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000764 (NFE)
Exomes Max Group AF
0.0000081 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.8847737A>G , CM000678.2:g.8847737A>G | GRCh38 |
| NC_000016.9:g.8941594A>G , CM000678.1:g.8941594A>G | GRCh37 |
| NC_000016.8:g.8849095A>G | NCBI36 |
| NG_009209.1:g.54925A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567697.2:n.3821A>G | ||
| ENST00000682393.1:c.*258-1632A>G | ENSP00000506774.1:n.*258-1632A>G | |
| ENST00000683094.1:c.*262-1632A>G | ENSP00000508230.1:n.*262-1632A>G | |
| ENST00000683274.1:c.*180-1632A>G | ENSP00000507262.1:n.*180-1632A>G | |
| ENST00000683435.1:c.*549A>G | ENSP00000508092.1:n.*549A>G | |
| ENST00000268261.9:c.653A>G MANE Select | ENSP00000268261.4:p.His218Arg | |
| ENST00000268261.8:c.653A>G | ENSP00000268261.4:p.His218Arg | |
| ENST00000562025.1:n.187A>G | ||
| ENST00000562318.5:c.*375A>G | ENSP00000454395.1:n.*375A>G | |
| ENST00000565221.5:c.*271A>G | ENSP00000457932.1:n.*271A>G | |
| ENST00000566540.5:c.*275A>G | ENSP00000454284.1:n.*275A>G | |
| ENST00000566604.5:c.*193A>G | ENSP00000456774.1:n.*193A>G | |
| ENST00000566983.5:c.572A>G | ENSP00000457956.1:p.His191Arg | |
| ENST00000567697.1:n.3821A>G | ||
| ENST00000569958.5:c.380A>G | ENSP00000456302.1:p.His127Arg | |
| ENST00000570076.5:c.*111A>G | ENSP00000456961.1:n.*111A>G | |
| NM_000303.2:c.653A>G | NP_000294.1:p.His218Arg | |
| XM_005255374.3:c.404A>G | XP_005255431.1:p.His135Arg | |
| XM_011522538.1:c.640-7297A>G | XP_011520840.1:n.640-7297A>G | |
| XM_005255374.4:c.404A>G | XP_005255431.1:p.His135Arg | |
| NM_000303.3:c.653A>G MANE Select | NP_000294.1:p.His218Arg |