Revel Score:
ENST00000261978 (MANE Select)
0.120
ENST00000556690
0.120
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00013501 (MID)
Exomes Max Group AF
0.00006159 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74551266C>T , CM000676.2:g.74551266C>T | GRCh38 |
| NC_000014.8:g.75017969C>T , CM000676.1:g.75017969C>T | GRCh37 |
| NC_000014.7:g.74087722C>T | NCBI36 |
| NG_021486.1:g.66066G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261978.9:c.1484G>A MANE Select | ENSP00000261978.4:p.Arg495Gln | |
| ENST00000261978.8:c.1484G>A | ENSP00000261978.4:p.Arg495Gln | |
| ENST00000553939.5:c.1484G>A | ENSP00000452110.1:p.Arg495Gln | |
| ENST00000556690.5:c.1484G>A | ENSP00000451477.1:p.Arg495Gln | |
| ENST00000557425.1:n.208G>A | ||
| NM_000428.2:c.1484G>A | NP_000419.1:p.Arg495Gln | |
| XM_011536765.1:c.1484G>A | XP_011535067.1:p.Arg495Gln | |
| XM_011536766.1:c.1025G>A | XP_011535068.1:p.Arg342Gln | |
| XM_011536767.1:c.1001G>A | XP_011535069.1:p.Arg334Gln | |
| XM_011536765.2:c.1484G>A | XP_011535067.1:p.Arg495Gln | |
| NM_000428.3:c.1484G>A MANE Select | NP_000419.1:p.Arg495Gln |