COSMIC:
COSM3752927 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.64285786 (EAS)
Genomes Max Group AF
0.63870525 (EAS)
Exomes Max Group AF
0.64142292 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.112961114G>A , CM000674.2:g.112961114G>A | GRCh38 |
| NC_000012.11:g.113398919G>A , CM000674.1:g.113398919G>A | GRCh37 |
| NC_000012.10:g.111883302G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228928.12:c.1701G>A MANE Select | ENSP00000228928.7:p.Ser567= | |
| ENST00000546800.2:n.447G>A | ||
| ENST00000679354.1:c.1623G>A | ENSP00000505880.1:p.Ser541= | |
| ENST00000679483.1:c.1626G>A | ENSP00000505798.1:p.Ser542= | |
| ENST00000679493.1:c.1701G>A | ENSP00000506397.1:p.Ser567= | |
| ENST00000679505.1:c.*1352G>A | ENSP00000506118.1:n.*1352G>A | |
| ENST00000679517.1:c.*976G>A | ENSP00000506294.1:n.*976G>A | |
| ENST00000679547.1:c.*1124G>A | ENSP00000506567.1:n.*1124G>A | |
| ENST00000679562.1:c.*1352G>A | ENSP00000505418.1:n.*1352G>A | |
| ENST00000679812.1:c.1696G>A | ENSP00000505154.1:p.Glu566Lys | |
| ENST00000679912.1:c.1701G>A | ENSP00000504871.1:p.Ser567= | |
| ENST00000680044.1:c.1701G>A | ENSP00000505627.1:p.Ser567= | |
| ENST00000680090.1:c.1701G>A | ENSP00000506611.1:p.Ser567= | |
| ENST00000680161.1:c.1626G>A | ENSP00000506045.1:p.Ser542= | |
| ENST00000680177.1:c.1666G>A | ENSP00000505925.1:p.Glu556Lys | |
| ENST00000680293.1:c.1697G>A | ENSP00000505651.1:p.Arg566Gln | |
| ENST00000680438.1:c.1701G>A | ENSP00000505969.1:p.Ser567= | |
| ENST00000681002.1:c.1701G>A | ENSP00000506106.1:p.Ser567= | |
| ENST00000681007.1:c.1697G>A | ENSP00000505477.1:p.Arg566Gln | |
| ENST00000681134.1:c.1701G>A | ENSP00000506146.1:p.Ser567= | |
| ENST00000681346.1:c.1701G>A | ENSP00000505939.1:p.Ser567= | |
| ENST00000681497.1:c.1701G>A | ENSP00000505225.1:p.Ser567= | |
| ENST00000681527.1:n.1727G>A | ||
| ENST00000681594.1:c.1697G>A | ENSP00000506365.1:p.Arg566Gln | |
| ENST00000681764.1:c.1701G>A | ENSP00000506335.1:p.Ser567= | |
| ENST00000228928.11:c.1701G>A | ENSP00000228928.7:p.Ser567= | |
| ENST00000546800.1:n.447G>A | ||
| NM_006187.3:c.1701G>A | NP_006178.2:p.Ser567= | |
| XM_005253889.2:c.1701G>A | XP_005253946.1:p.Ser567= | |
| XM_005253889.4:c.1701G>A | XP_005253946.1:p.Ser567= | |
| XM_017019363.2:c.1701G>A | XP_016874852.1:p.Ser567= | |
| NM_006187.4:c.1701G>A MANE Select | NP_006178.2:p.Ser567= |