Revel Score:
ENST00000336411
0.613
ENST00000415003
0.613
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00026206 (NFE)
Genomes Max Group AF
0.00013497 (NFE)
Exomes Max Group AF
0.00026454 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99770165C>T , CM000669.2:g.99770165C>T | GRCh38 |
| NC_000007.13:g.99367788C>T , CM000669.1:g.99367788C>T | GRCh37 |
| NC_000007.12:g.99205724C>T | NCBI36 |
| NG_008421.1:g.19021G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336411.7:c.389G>A | ENSP00000337915.3:p.Arg130Gln | |
| ENST00000651514.1:c.389G>A MANE Select | ENSP00000498939.1:p.Arg130Gln | |
| ENST00000651783.1:c.58-1658G>A | ENSP00000498924.1:n.58-1658G>A | |
| ENST00000652018.1:c.242G>A | ENSP00000498733.1:p.Arg81Gln | |
| ENST00000336411.6:c.389G>A | ENSP00000337915.2:p.Arg130Gln | |
| ENST00000354593.6:c.72-1663G>A | ENSP00000346607.2:n.72-1663G>A | |
| ENST00000415003.1:c.428G>A | ENSP00000397208.1:p.Arg143Gln | |
| ENST00000480043.1:n.286G>A | ||
| NM_001202855.2:c.389G>A | NP_001189784.1:p.Arg130Gln | |
| NM_017460.5:c.389G>A | NP_059488.2:p.Arg130Gln | |
| XM_011515841.1:c.389G>A | XP_011514143.1:p.Arg130Gln | |
| XM_011515842.1:c.389G>A | XP_011514144.1:p.Arg130Gln | |
| NM_017460.6:c.389G>A MANE Select | NP_059488.2:p.Arg130Gln | |
| NM_001202855.3:c.389G>A | NP_001189784.1:p.Arg130Gln |