Revel Score:
ENST00000338961 (MANE Select)
0.068
ENST00000277462
0.068
ENST00000449878
0.068
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.20431158 (NFE)
Genomes Max Group AF
0.19493041 (NFE)
Exomes Max Group AF
0.2047356 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128122474C>T , CM000671.2:g.128122474C>T | GRCh38 |
| NC_000009.11:g.130884753C>T , CM000671.1:g.130884753C>T | GRCh37 |
| NC_000009.10:g.129924574C>T | NCBI36 |
| NG_012488.1:g.10722G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338961.11:c.893G>A MANE Select | ENSP00000345341.6:p.Arg298His | |
| ENST00000474124.6:c.*316G>A | ENSP00000503197.1:n.*316G>A | |
| ENST00000476655.6:n.1590G>A | ||
| ENST00000483625.6:n.1365G>A | ||
| ENST00000493205.6:n.2803G>A | ||
| ENST00000497109.6:n.1358G>A | ||
| ENST00000676562.1:c.*477G>A | ENSP00000504019.1:n.*477G>A | |
| ENST00000677651.1:c.*494G>A | ENSP00000502881.1:n.*494G>A | |
| ENST00000677691.1:c.320G>A | ENSP00000503821.1:p.Arg107His | |
| ENST00000677980.1:c.*940G>A | ENSP00000503843.1:n.*940G>A | |
| ENST00000678174.1:c.869G>A | ENSP00000504703.1:p.Arg290His | |
| ENST00000678916.1:c.*127G>A | ENSP00000504746.1:n.*127G>A | |
| ENST00000679345.1:c.*657G>A | ENSP00000502870.1:n.*657G>A | |
| ENST00000277462.9:c.320G>A | ENSP00000277462.5:p.Arg107His | |
| ENST00000338961.10:c.893G>A | ENSP00000345341.6:p.Arg298His | |
| ENST00000449878.1:c.788G>A | ENSP00000411378.1:p.Arg263His | |
| ENST00000474124.5:n.847G>A | ||
| ENST00000476655.5:n.428G>A | ||
| ENST00000487063.5:n.610G>A | ||
| ENST00000493205.5:n.880G>A | ||
| ENST00000496594.5:n.1440G>A | ||
| ENST00000617202.4:c.320G>A | ENSP00000482913.1:p.Arg107His | |
| NM_001256335.1:c.320G>A | NP_001243264.1:p.Arg107His | |
| NM_025072.6:c.893G>A | NP_079348.1:p.Arg298His | |
| NM_198938.2:c.320G>A | NP_945176.1:p.Arg107His | |
| XM_005252239.1:c.320G>A | XP_005252296.1:p.Arg107His | |
| XM_011519050.1:c.320G>A | XP_011517352.1:p.Arg107His | |
| XM_011519051.1:c.320G>A | XP_011517353.1:p.Arg107His | |
| XM_005252239.2:c.320G>A | XP_005252296.1:p.Arg107His | |
| XM_011519051.3:c.320G>A | XP_011517353.1:p.Arg107His | |
| XM_024447688.1:c.320G>A | XP_024303456.1:p.Arg107His | |
| XR_001746383.2:n.1299G>A | ||
| NM_025072.7:c.893G>A MANE Select | NP_079348.1:p.Arg298His | |
| NM_001256335.2:c.320G>A | NP_001243264.1:p.Arg107His | |
| NM_198938.3:c.320G>A | NP_945176.1:p.Arg107His |