Revel Score:
ENST00000496887
0.931
ENST00000155840 (MANE Select)
0.931
ENST00000335475
0.931
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000443 (AFR)
Exomes Max Group AF
0.0000031 (NFE)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2570685G>A , CM000673.2:g.2570685G>A | GRCh38 |
| NC_000011.9:g.2591915G>A , CM000673.1:g.2591915G>A | GRCh37 |
| NC_000011.8:g.2548491G>A | NCBI36 |
| NG_008935.1:g.130695G>A , LRG_287:g.130695G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.274G>A | ENSP00000434560.2:p.Gly92Ser | |
| ENST00000646564.2:c.478-12750G>A | ENSP00000495806.2:n.478-12750G>A | |
| ENST00000155840.12:c.535G>A MANE Select | ENSP00000155840.2:p.Gly179Ser | |
| ENST00000335475.6:c.154G>A | ENSP00000334497.5:p.Gly52Ser | |
| ENST00000646564.1:c.124-12750G>A | ENSP00000495806.1:n.124-12750G>A | |
| ENST00000155840.9:c.535G>A | ENSP00000155840.2:p.Gly179Ser | |
| ENST00000335475.5:c.154G>A | ENSP00000334497.5:p.Gly52Ser | |
| ENST00000496887.6:c.274G>A | ENSP00000434560.1:p.Gly92Ser | |
| NM_000218.2:c.535G>A , LRG_287t1:c.535G>A | NP_000209.2:p.Gly179Ser | |
| NM_181798.1:c.154G>A , LRG_287t2:c.154G>A | NP_861463.1:p.Gly52Ser | |
| NM_000218.3:c.535G>A MANE Select | NP_000209.2:p.Gly179Ser |