Revel Score:
ENST00000367229 (MANE Select)
0.870
ENST00000255427
0.870
ENST00000535569
0.870
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.08173247 (AFR)
Genomes Max Group AF
0.07961777 (AFR)
Exomes Max Group AF
0.08276952 (AFR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.203217835C>T , CM000663.2:g.203217835C>T | GRCh38 |
| NC_000001.10:g.203186963C>T , CM000663.1:g.203186963C>T | GRCh37 |
| NC_000001.9:g.201453586C>T | NCBI36 |
| NG_012867.1:g.16898G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367229.6:c.1060G>A MANE Select | ENSP00000356198.1:p.Gly354Arg | |
| ENST00000255427.7:c.1003G>A | ENSP00000255427.3:p.Gly335Arg | |
| ENST00000367229.5:c.1060G>A | ENSP00000356198.1:p.Gly354Arg | |
| ENST00000479483.1:n.187G>A | ||
| ENST00000484834.5:n.5292G>A | ||
| ENST00000491855.5:c.1060G>A | ENSP00000423778.1:p.Gly354Arg | |
| ENST00000503786.1:c.*131G>A | ENSP00000421617.1:n.*131G>A | |
| NM_001256125.1:c.1003G>A | NP_001243054.2:p.Gly335Arg | |
| NM_001270509.1:c.982-57G>A | NP_001257438.1:n.982-57G>A | |
| NM_003465.2:c.1060G>A | NP_003456.1:p.Gly354Arg | |
| NR_045784.1:n.1313G>A | ||
| NR_045785.1:n.1156G>A | ||
| XM_011509109.1:c.1105G>A | XP_011507411.1:p.Gly369Arg | |
| XM_011509110.1:c.1105G>A | XP_011507412.1:p.Gly369Arg | |
| XR_921732.1:n.1262G>A | ||
| NM_003465.3:c.1060G>A MANE Select | NP_003456.1:p.Gly354Arg | |
| NM_001256125.2:c.1003G>A | NP_001243054.2:p.Gly335Arg | |
| NR_045784.2:n.1254G>A | ||
| NR_045785.2:n.1097G>A |