Revel Score:
ENST00000503569
0.334
ENST00000226760 (MANE Select)
0.334
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00069325 (AMR)
Genomes Max Group AF
0.00021482 (AMR)
Exomes Max Group AF
0.00079188 (AMR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6301519C>G , CM000666.2:g.6301519C>G | GRCh38 |
| NC_000004.11:g.6303246C>G , CM000666.1:g.6303246C>G | GRCh37 |
| NC_000004.10:g.6354147C>G | NCBI36 |
| NG_011700.1:g.36670C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.1760C>G | ENSP00000507852.1:p.Ala587Gly | |
| ENST00000683395.1:c.1701C>G | ||
| ENST00000684087.1:c.1724C>G | ENSP00000506978.1:p.Ala575Gly | |
| ENST00000506362.2:c.1475C>G | ENSP00000424103.2:p.Ala492Gly | |
| ENST00000673642.1:c.1383C>G | ENSP00000501242.1:n.1383C>G | |
| ENST00000673991.1:c.1760C>G | ENSP00000501033.1:p.Ala587Gly | |
| ENST00000226760.5:c.1724C>G MANE Select | ENSP00000226760.1:p.Ala575Gly | |
| ENST00000503569.5:c.1724C>G | ENSP00000423337.1:p.Ala575Gly | |
| ENST00000507765.1:n.1909C>G | ||
| NM_001145853.1:c.1724C>G | NP_001139325.1:p.Ala575Gly | |
| NM_006005.3:c.1724C>G MANE Select | NP_005996.2:p.Ala575Gly | |
| XM_017008586.1:c.1733C>G | XP_016864075.1:p.Ala578Gly |