Revel Score:
ENST00000362061 (MANE Select)
0.499
ENST00000367338
0.499
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00006476 (NFE)
Genomes Max Group AF
0.00015876 (NFE)
Exomes Max Group AF
0.0000551 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.201043413T>A , CM000663.2:g.201043413T>A | GRCh38 |
| NC_000001.10:g.201012541T>A , CM000663.1:g.201012541T>A | GRCh37 |
| NC_000001.9:g.199279164T>A | NCBI36 |
| NG_009816.1:g.74154A>T | |
| NG_009816.2:g.74154A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362061.4:c.4916A>T MANE Select | ENSP00000355192.3:p.Glu1639Val | |
| ENST00000679417.1:c.*4079A>T | ENSP00000506706.1:n.*4079A>T | |
| ENST00000680051.1:n.2042A>T | ||
| ENST00000680059.1:c.*2434A>T | ENSP00000504944.1:n.*2434A>T | |
| ENST00000681078.1:c.*691A>T | ENSP00000506645.1:n.*691A>T | |
| ENST00000681190.1:c.*1098A>T | ENSP00000506428.1:n.*1098A>T | |
| ENST00000681874.1:c.4856A>T | ENSP00000505162.1:p.Glu1619Val | |
| ENST00000362061.3:c.4916A>T | ENSP00000355192.3:p.Glu1639Val | |
| ENST00000367338.7:c.4859A>T | ENSP00000356307.3:p.Glu1620Val | |
| NM_000069.2:c.4916A>T | NP_000060.2:p.Glu1639Val | |
| XM_005245478.2:c.4859A>T | XP_005245535.1:p.Glu1620Val | |
| XM_005245478.3:c.4859A>T | XP_005245535.1:p.Glu1620Val | |
| NM_000069.3:c.4916A>T MANE Select | NP_000060.2:p.Glu1639Val |