COSMIC:
COSM3753942 (not active)
COSM3753943 (not active)
COSM3753944 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.16692632 (NFE)
Genomes Max Group AF
0.16193868 (NFE)
Exomes Max Group AF
0.16710889 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.33800515C>T , CM000676.2:g.33800515C>T | GRCh38 |
| NC_000014.8:g.34269721C>T , CM000676.1:g.34269721C>T | GRCh37 |
| NC_000014.7:g.33339472C>T | NCBI36 |
| NG_013036.1:g.866263C>T | |
| NG_013036.2:g.866263C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356141.9:c.2208C>T MANE Select | ENSP00000348460.4:p.Thr736= | |
| ENST00000551634.6:c.2217C>T | ENSP00000448373.2:p.Thr739= | |
| ENST00000680362.1:c.2108C>T | ||
| ENST00000681323.1:c.793+2934C>T | ||
| ENST00000346562.6:c.2112C>T | ENSP00000319610.5:p.Thr704= | |
| ENST00000356141.8:c.2208C>T | ENSP00000348460.4:p.Thr736= | |
| ENST00000357798.9:c.2169C>T | ENSP00000350446.5:p.Thr723= | |
| ENST00000548645.5:c.2118C>T | ENSP00000448916.1:p.Thr706= | |
| ENST00000551492.5:c.2223C>T | ENSP00000450392.1:p.Thr741= | |
| ENST00000551634.5:c.2130C>T | ENSP00000448373.1:p.Thr710= | |
| NM_001164749.1:c.2208C>T | NP_001158221.1:p.Thr736= | |
| NM_001165893.1:c.2118C>T | NP_001159365.1:p.Thr706= | |
| NM_022123.2:c.2112C>T | NP_071406.1:p.Thr704= | |
| NM_173159.2:c.2169C>T | NP_775182.1:p.Thr723= | |
| XM_005267991.2:c.2229C>T | XP_005268048.1:p.Thr743= | |
| XM_005267992.2:c.2223C>T | XP_005268049.1:p.Thr741= | |
| XM_005267993.2:c.2169C>T | XP_005268050.1:p.Thr723= | |
| XM_011537067.1:c.2259C>T | XP_011535369.1:p.Thr753= | |
| XM_011537068.1:c.2250C>T | XP_011535370.1:p.Thr750= | |
| XM_011537069.1:c.2220C>T | XP_011535371.1:p.Thr740= | |
| XM_011537070.1:c.2163C>T | XP_011535372.1:p.Thr721= | |
| XM_011537071.1:c.2130C>T | XP_011535373.1:p.Thr710= | |
| XM_011537072.1:c.2109C>T | XP_011535374.1:p.Thr703= | |
| XM_011537073.1:c.1902C>T | XP_011535375.1:p.Thr634= | |
| XM_011537074.1:c.1902C>T | XP_011535376.1:p.Thr634= | |
| XM_005267991.3:c.2316C>T | XP_005268048.2:p.Thr772= | |
| XM_005267992.3:c.2310C>T | XP_005268049.2:p.Thr770= | |
| XM_011537067.2:c.2259C>T | XP_011535369.1:p.Thr753= | |
| XM_011537069.2:c.2307C>T | XP_011535371.2:p.Thr769= | |
| XM_011537070.2:c.2163C>T | XP_011535372.1:p.Thr721= | |
| XM_011537071.2:c.2217C>T | XP_011535373.2:p.Thr739= | |
| XM_011537072.2:c.2109C>T | XP_011535374.1:p.Thr703= | |
| XM_017021582.1:c.2367C>T | XP_016877071.1:p.Thr789= | |
| XM_017021583.1:c.2358C>T | XP_016877072.1:p.Thr786= | |
| XM_017021584.1:c.2277C>T | XP_016877073.1:p.Thr759= | |
| XM_017021585.1:c.2226C>T | XP_016877074.1:p.Thr742= | |
| XM_017021586.1:c.1902C>T | XP_016877075.1:p.Thr634= | |
| XM_017021587.1:c.1902C>T | XP_016877076.1:p.Thr634= | |
| XM_017021588.1:c.1902C>T | XP_016877077.1:p.Thr634= | |
| NM_001164749.2:c.2208C>T MANE Select | NP_001158221.1:p.Thr736= | |
| NM_001165893.2:c.2118C>T | NP_001159365.1:p.Thr706= | |
| NM_022123.3:c.2112C>T | NP_071406.1:p.Thr704= | |
| NM_173159.3:c.2169C>T | NP_775182.1:p.Thr723= | |
| NM_001394988.1:c.2163C>T | NP_001381917.1:p.Thr721= | |
| NM_001394989.1:c.2109C>T | NP_001381918.1:p.Thr703= |