Revel Score:
ENST00000245907 (MANE Select)
0.333
gnomAD v4:
Joint Max Group AF
0.00000443 (AFR)
Exomes Max Group AF
0.00000989 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6709754C>T , CM000681.2:g.6709754C>T | GRCh38 |
| NC_000019.9:g.6709765C>T , CM000681.1:g.6709765C>T | GRCh37 |
| NC_000019.8:g.6660765C>T | NCBI36 |
| NG_009557.1:g.15898G>A , LRG_27:g.15898G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.1652G>A | ENSP00000512083.1:p.Arg551Gln | |
| ENST00000695654.1:c.899G>A | ENSP00000512085.1:p.Arg300Gln | |
| ENST00000695655.1:c.716G>A | ENSP00000512086.1:n.716G>A | |
| ENST00000695692.1:n.1139G>A | ||
| ENST00000245907.11:c.1775G>A MANE Select | ENSP00000245907.4:p.Arg592Gln | |
| ENST00000245907.10:c.1775G>A | ENSP00000245907.4:p.Arg592Gln | |
| NM_000064.3:c.1775G>A | NP_000055.2:p.Arg592Gln | |
| NM_000064.4:c.1775G>A MANE Select | NP_000055.2:p.Arg592Gln |