Revel Score:
ENST00000341259 (MANE Select)
0.108
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0147722 (MID)
Genomes Max Group AF
0.00163559 (AMR)
Exomes Max Group AF
0.01334213 (MID)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.111418767G>C , CM000674.2:g.111418767G>C | GRCh38 |
| NC_000012.11:g.111856571G>C , CM000674.1:g.111856571G>C | GRCh37 |
| NC_000012.10:g.110340954G>C | NCBI36 |
| NG_021216.1:g.17820G>C , LRG_621:g.17820G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341259.7:c.622G>C MANE Select | ENSP00000345492.2:p.Glu208Gln | |
| ENST00000341259.6:c.622G>C | ENSP00000345492.2:p.Glu208Gln | |
| ENST00000550925.2:c.428G>C | ||
| NM_005475.2:c.622G>C , LRG_621t1:c.622G>C | NP_005466.1:p.Glu208Gln | |
| XM_005253818.3:c.622G>C | XP_005253875.1:p.Glu208Gln | |
| XM_005253819.3:c.622G>C | XP_005253876.1:p.Glu208Gln | |
| XM_011537719.1:c.622G>C | XP_011536021.1:p.Glu208Gln | |
| XM_011537720.1:c.622G>C | XP_011536022.1:p.Glu208Gln | |
| XM_011537722.1:c.622G>C | XP_011536024.1:p.Glu208Gln | |
| XM_005253818.4:c.622G>C | XP_005253875.1:p.Glu208Gln | |
| XM_005253819.4:c.622G>C | XP_005253876.1:p.Glu208Gln | |
| XM_011537719.2:c.622G>C | XP_011536021.1:p.Glu208Gln | |
| XM_011537720.3:c.622G>C | XP_011536022.1:p.Glu208Gln | |
| XM_024448790.1:c.622G>C | XP_024304558.1:p.Glu208Gln | |
| XR_001748535.1:n.1023G>C | ||
| XR_001748536.1:n.1022G>C | ||
| XR_002957278.1:n.1019G>C | ||
| NM_005475.3:c.622G>C MANE Select | NP_005466.1:p.Glu208Gln |