Revel Score:
ENST00000368089
0.516
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00053767 (NFE)
Genomes Max Group AF
0.00035411 (NFE)
Exomes Max Group AF
0.00054211 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160041472T>C , CM000663.2:g.160041472T>C | GRCh38 |
| NC_000001.10:g.160011262T>C , CM000663.1:g.160011262T>C | GRCh37 |
| NC_000001.9:g.158277886T>C | NCBI36 |
| NG_016411.1:g.33700A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509700.2:c.671+362A>G | ||
| ENST00000636689.1:n.95-2124A>G | ||
| ENST00000637644.1:c.487+574A>G | ENSP00000490282.1:n.487+574A>G | |
| ENST00000638728.1:c.1061A>G | ENSP00000492619.1:p.Lys354Arg | |
| ENST00000638840.1:c.783A>G | ||
| ENST00000638868.1:c.1061A>G | ENSP00000491250.1:p.Lys354Arg | |
| ENST00000639408.1:c.487+574A>G | ENSP00000491635.1:n.487+574A>G | |
| ENST00000640017.1:c.669+362A>G | ENSP00000491337.1:n.669+362A>G | |
| ENST00000640914.1:c.124+362A>G | ||
| ENST00000644903.1:c.1061A>G MANE Select | ENSP00000495557.1:p.Lys354Arg | |
| ENST00000368089.3:c.1061A>G | ENSP00000357068.3:p.Lys354Arg | |
| ENST00000509700.1:n.462+362A>G | ||
| NM_002241.4:c.1061A>G | NP_002232.2:p.Lys354Arg | |
| NM_002241.5:c.1061A>G MANE Select | NP_002232.2:p.Lys354Arg |