COSMIC:
COSM5002029 (not active)
Revel Score:
ENST00000374477
0.057
ENST00000216968 (MANE Select)
0.057
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.17363483 (SAS)
Genomes Max Group AF
0.1500456 (SAS)
Exomes Max Group AF
0.17448869 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.35176751A>G , CM000682.2:g.35176751A>G | GRCh38 |
| NC_000020.10:g.33764554A>G , CM000682.1:g.33764554A>G | GRCh37 |
| NC_000020.9:g.33228215A>G | NCBI36 |
| NG_032899.1:g.9781A>G | |
| NG_032899.2:g.9781A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216968.5:c.655A>G MANE Select | ENSP00000216968.3:p.Ser219Gly | |
| ENST00000216968.4:c.655A>G | ENSP00000216968.3:p.Ser219Gly | |
| ENST00000634509.1:c.94+305A>G | ENSP00000489456.1:n.94+305A>G | |
| ENST00000635377.1:c.501+305A>G | ||
| NM_006404.4:c.655A>G | NP_006395.2:p.Ser219Gly | |
| XM_011528496.1:c.601+305A>G | XP_011526798.1:n.601+305A>G | |
| NM_001355008.1:c.-101-10880T>C | NP_001341937.1:n.-101-10880T>C | |
| NM_006404.5:c.655A>G MANE Select | NP_006395.2:p.Ser219Gly | |
| NM_001355008.2:c.-101-10880T>C | NP_001341937.1:n.-101-10880T>C |