ClinVar RCV:
ClinVar Variation:
COSMIC:
COSM4445211
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.99836488 (NFE)
Genomes Max Group AF
0.99352611 (NFE)
Exomes Max Group AF
0.99832238 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120999579A>G , CM000674.2:g.120999579A>G | GRCh38 |
| NC_000012.11:g.121437382A>G , CM000674.1:g.121437382A>G | GRCh37 |
| NC_000012.10:g.119921765A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560968.6:c.*467A>G | ENSP00000453965.2:n.*467A>G | |
| ENST00000257555.11:c.1720A>G MANE Select | ENSP00000257555.5:p.Ser574Gly | |
| ENST00000257555.10:c.1720A>G | ENSP00000257555.4:p.Ser574Gly | |
| ENST00000540108.1:c.*1160A>G | ENSP00000445445.1:n.*1160A>G | |
| ENST00000541395.5:c.1813A>G | ENSP00000443112.1:p.Ser605Gly | |
| ENST00000543427.5:c.1183A>G | ENSP00000439721.2:p.Ser395Gly | |
| ENST00000544413.2:c.1741A>G | ENSP00000438804.1:p.Ser581Gly | |
| ENST00000560968.5:c.1537A>G | ||
| ENST00000615446.4:c.508A>G | ENSP00000483994.1:p.Ser170Gly | |
| ENST00000617366.4:c.*129A>G | ENSP00000481967.1:n.*129A>G | |
| XM_005253931.2:c.1813A>G | XP_005253988.1:p.Ser605Gly | |
| XM_024449168.1:c.1813A>G | XP_024304936.1:p.Ser605Gly | |
| NM_000545.8:c.1720A>G MANE Select | NP_000536.6:p.Ser574Gly | |
| NM_001306179.2:c.1741A>G | NP_001293108.2:p.Ser581Gly |