COSMIC:
COSM6178946 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00420427 (NFE)
Genomes Max Group AF
0.00411247 (NFE)
Exomes Max Group AF
0.00418729 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.96121909G>A , CM000669.2:g.96121909G>A | GRCh38 |
| NC_000007.13:g.95751221G>A , CM000669.1:g.95751221G>A | GRCh37 |
| NC_000007.12:g.95589157G>A | NCBI36 |
| NG_012247.1:g.205239C>T | |
| NG_012247.2:g.205239C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265631.10:c.1680C>T MANE Select | ENSP00000265631.6:p.Ser560= | |
| ENST00000265631.9:c.1680C>T | ENSP00000265631.5:p.Ser560= | |
| ENST00000416240.6:c.1683C>T | ENSP00000400101.2:p.Ser561= | |
| ENST00000494085.1:n.90C>T | ||
| NM_001160210.1:c.1683C>T | NP_001153682.1:p.Ser561= | |
| NM_014251.2:c.1680C>T | NP_055066.1:p.Ser560= | |
| NR_027662.1:n.1755C>T | ||
| XM_006715831.2:c.1713C>T | XP_006715894.1:p.Ser571= | |
| XM_011515728.1:c.828C>T | XP_011514030.1:p.Ser276= | |
| XM_006715831.4:c.1713C>T | XP_006715894.1:p.Ser571= | |
| XM_017011663.1:c.1671C>T | XP_016867152.1:p.Ser557= | |
| XM_017011664.2:c.828C>T | XP_016867153.1:p.Ser276= | |
| XM_017011665.1:c.828C>T | XP_016867154.1:p.Ser276= | |
| XR_001744525.2:n.1926C>T | ||
| XR_002956405.1:n.2484C>T | ||
| NM_014251.3:c.1680C>T MANE Select | NP_055066.1:p.Ser560= | |
| NR_027662.2:n.1706C>T | ||
| NM_001160210.2:c.1683C>T | NP_001153682.1:p.Ser561= |