COSMIC:
Revel Score:
ENST00000218099 (MANE Select)
0.905
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000731 (AMR)
Exomes Max Group AF
0.00000175 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.139541114G>A , CM000685.2:g.139541114G>A | GRCh38 |
| NC_000023.10:g.138623273G>A , CM000685.1:g.138623273G>A | GRCh37 |
| NC_000023.9:g.138450939G>A | NCBI36 |
| NG_007994.1:g.15379G>A , LRG_556:g.15379G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218099.7:c.316G>A MANE Select | ENSP00000218099.2:p.Gly106Ser | |
| ENST00000218099.6:c.316G>A | ENSP00000218099.2:p.Gly106Ser | |
| ENST00000394090.2:c.277+3728G>A | ENSP00000377650.2:n.277+3728G>A | |
| ENST00000479617.2:n.269G>A | ||
| NM_000133.3:c.316G>A , LRG_556t1:c.316G>A | NP_000124.1:p.Gly106Ser | |
| NM_001313913.1:c.277+3728G>A | NP_001300842.1:n.277+3728G>A | |
| XM_005262397.3:c.316G>A | XP_005262454.1:p.Gly106Ser | |
| XM_005262397.4:c.316G>A | XP_005262454.1:p.Gly106Ser | |
| NM_000133.4:c.316G>A MANE Select | NP_000124.1:p.Gly106Ser | |
| NM_001313913.2:c.277+3728G>A | NP_001300842.1:n.277+3728G>A |