COSMIC:
COSM1365021 (not active)
COSM1365022 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.55340468 (MID)
Genomes Max Group AF
0.54778391 (AFR)
Exomes Max Group AF
0.55306303 (MID)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.9681032C>T , CM000674.2:g.9681032C>T | GRCh38 |
| NC_000012.11:g.9833628C>T , CM000674.1:g.9833628C>T | GRCh37 |
| NC_000012.10:g.9724895C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290855.11:c.171C>T MANE Select | ENSP00000290855.6:p.Ser57= | |
| ENST00000261339.10:c.62-6870C>T | ENSP00000261339.6:n.62-6870C>T | |
| ENST00000261340.11:c.171C>T | ENSP00000261340.7:p.Ser57= | |
| ENST00000290855.10:c.171C>T | ENSP00000290855.6:p.Ser57= | |
| ENST00000325960.11:c.171C>T | ENSP00000371409.3:p.Ser57= | |
| ENST00000430909.5:c.108C>T | ENSP00000413045.1:p.Ser36= | |
| ENST00000444971.6:c.171C>T | ENSP00000399744.2:p.Ser57= | |
| ENST00000466035.6:c.44-6870C>T | ENSP00000446028.1:n.44-6870C>T | |
| ENST00000476198.2:c.45C>T | ENSP00000443627.1:p.Ser15= | |
| ENST00000479877.5:c.171C>T | ENSP00000441653.1:p.Ser57= | |
| ENST00000487752.1:n.269C>T | ||
| ENST00000492359.6:c.*68C>T | ENSP00000443110.1:n.*68C>T | |
| ENST00000536355.5:c.45C>T | ENSP00000438735.1:p.Ser15= | |
| ENST00000543300.5:c.171C>T | ENSP00000443065.1:p.Ser57= | |
| ENST00000544322.1:c.93C>T | ENSP00000437861.1:p.Ser31= | |
| ENST00000545918.5:c.62-6870C>T | ENSP00000444818.1:n.62-6870C>T | |
| NM_001004419.4:c.171C>T | NP_001004419.1:p.Ser57= | |
| NM_001197317.2:c.62-6870C>T | NP_001184246.1:n.62-6870C>T | |
| NM_001197318.2:c.171C>T | NP_001184247.1:p.Ser57= | |
| NM_001197319.2:c.62-6870C>T | NP_001184248.1:n.62-6870C>T | |
| NM_013269.5:c.171C>T | NP_037401.1:p.Ser57= | |
| NR_036693.2:n.198C>T | ||
| NM_013269.6:c.171C>T MANE Select | NP_037401.1:p.Ser57= | |
| NM_001004419.5:c.171C>T | NP_001004419.1:p.Ser57= | |
| NM_001197317.3:c.62-6870C>T | NP_001184246.1:n.62-6870C>T | |
| NM_001197318.3:c.171C>T | NP_001184247.1:p.Ser57= | |
| NM_001197319.3:c.62-6870C>T | NP_001184248.1:n.62-6870C>T | |
| NR_036693.3:n.193C>T |