Revel Score:
ENST00000374695 (MANE Select)
0.090
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00418674 (NFE)
Genomes Max Group AF
0.00404083 (NFE)
Exomes Max Group AF
0.00417322 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21880484C>T , CM000663.2:g.21880484C>T | GRCh38 |
| NC_000001.10:g.22206977C>T , CM000663.1:g.22206977C>T | GRCh37 |
| NC_000001.9:g.22079564C>T | NCBI36 |
| NG_016740.1:g.61774G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374695.8:c.2074G>A MANE Select | ENSP00000363827.3:p.Val692Met | |
| ENST00000374695.7:c.2074G>A | ENSP00000363827.3:p.Val692Met | |
| NM_001291860.1:c.2077G>A | NP_001278789.1:p.Val693Met | |
| NM_005529.6:c.2074G>A | NP_005520.4:p.Val692Met | |
| XM_006710594.2:c.2125G>A | XP_006710657.1:p.Val709Met | |
| XM_006710595.2:c.2077G>A | XP_006710658.1:p.Val693Met | |
| XM_006710596.2:c.2128G>A | XP_006710659.1:p.Val710Met | |
| XM_006710597.2:c.2074G>A | XP_006710660.1:p.Val692Met | |
| XM_011541317.1:c.2128G>A | XP_011539619.1:p.Val710Met | |
| XM_011541318.1:c.2128G>A | XP_011539620.1:p.Val710Met | |
| XM_011541319.1:c.2128G>A | XP_011539621.1:p.Val710Met | |
| XM_011541320.1:c.2128G>A | XP_011539622.1:p.Val710Met | |
| XM_011541321.1:c.2128G>A | XP_011539623.1:p.Val710Met | |
| XM_011541322.1:c.2128G>A | XP_011539624.1:p.Val710Met | |
| XM_011541318.2:c.2128G>A | XP_011539620.1:p.Val710Met | |
| XM_017001120.1:c.2269G>A | XP_016856609.1:p.Val757Met | |
| XM_017001121.1:c.2218G>A | XP_016856610.1:p.Val740Met | |
| XM_017001122.1:c.2215G>A | XP_016856611.1:p.Val739Met | |
| NM_005529.7:c.2074G>A MANE Select | NP_005520.4:p.Val692Met | |
| NM_001291860.2:c.2077G>A | NP_001278789.1:p.Val693Met |