Revel Score:
ENST00000338508
0.212
ENST00000457074
0.212
ENST00000413503
0.212
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00066435 (MID)
Genomes Max Group AF
0.00006803 (NFE)
Exomes Max Group AF
0.00039348 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.71118908C>T , CM000673.2:g.71118908C>T | GRCh38 |
| NC_000011.9:g.70829954C>T , CM000673.1:g.70829954C>T | GRCh37 |
| NC_000011.8:g.70507602C>T | NCBI36 |
| NG_042866.1:g.110889G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000601538.6:c.332G>A MANE Select | ENSP00000469689.2:p.Arg111His | |
| ENST00000601538.5:c.332G>A | ENSP00000469689.2:p.Arg111His | |
| ENST00000608988.5:c.332G>A | ENSP00000476264.2:p.Arg111His | |
| NM_012309.4:c.332G>A | NP_036441.2:p.Arg111His | |
| XM_005277930.2:c.332G>A | XP_005277987.1:p.Arg111His | |
| XM_006718478.2:c.332G>A | XP_006718541.1:p.Arg111His | |
| XM_011544854.1:c.332G>A | XP_011543156.1:p.Arg111His | |
| XM_011544855.1:c.332G>A | XP_011543157.1:p.Arg111His | |
| XM_011544856.1:c.332G>A | XP_011543158.1:p.Arg111His | |
| XM_011544857.1:c.332G>A | XP_011543159.1:p.Arg111His | |
| XM_011544858.1:c.332G>A | XP_011543160.1:p.Arg111His | |
| XM_017017387.1:c.332G>A | XP_016872876.1:p.Arg111His | |
| XM_017017388.1:c.332G>A | XP_016872877.1:p.Arg111His | |
| XM_017017389.1:c.332G>A | XP_016872878.1:p.Arg111His | |
| NM_012309.5:c.332G>A MANE Select | NP_036441.2:p.Arg111His |