COSMIC:
COSN19667281 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.36530332 (NFE)
Genomes Max Group AF
0.36367843 (NFE)
Exomes Max Group AF
0.36515723 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.150876016C>G , CM000668.2:g.150876016C>G | GRCh38 |
| NC_000006.11:g.151197152C>G , CM000668.1:g.151197152C>G | GRCh37 |
| NC_000006.10:g.151238845C>G | NCBI36 |
| NG_029185.1:g.15338C>G | |
| NG_029185.2:g.15338C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367321.8:c.228-74C>G MANE Select | ENSP00000356290.3:n.228-74C>G | |
| ENST00000367307.8:c.228-74C>G | ENSP00000356276.4:n.228-74C>G | |
| ENST00000367308.8:c.107-74C>G | ||
| ENST00000367321.7:c.228-74C>G | ENSP00000356290.3:n.228-74C>G | |
| ENST00000423867.2:c.-103-74C>G | ENSP00000400776.1:n.-103-74C>G | |
| ENST00000441122.5:c.-103-74C>G | ENSP00000407070.2:n.-103-74C>G | |
| ENST00000611279.4:c.228-74C>G | ENSP00000478253.1:n.228-74C>G | |
| ENST00000618312.4:c.30-74C>G | ENSP00000479539.1:n.30-74C>G | |
| NM_001242767.1:c.228-74C>G | NP_001229696.1:n.228-74C>G | |
| NM_001242768.1:c.30-74C>G | NP_001229697.1:n.30-74C>G | |
| NM_001242769.1:c.228-74C>G | NP_001229698.1:n.228-74C>G | |
| NM_015440.4:c.228-74C>G | NP_056255.2:n.228-74C>G | |
| XM_005266907.3:c.228-74C>G | XP_005266964.1:n.228-74C>G | |
| XM_005266910.3:c.228-74C>G | XP_005266967.1:n.228-74C>G | |
| XM_005266911.3:c.228-74C>G | XP_005266968.1:n.228-74C>G | |
| XM_011535729.1:c.228-74C>G | XP_011534031.1:n.228-74C>G | |
| XM_011535730.1:c.30-74C>G | XP_011534032.1:n.30-74C>G | |
| XM_011535731.1:c.30-74C>G | XP_011534033.1:n.30-74C>G | |
| XM_011535732.1:c.-103-74C>G | XP_011534034.1:n.-103-74C>G | |
| XM_011535733.1:c.-103-74C>G | XP_011534035.1:n.-103-74C>G | |
| XM_011535734.1:c.-103-74C>G | XP_011534036.1:n.-103-74C>G | |
| XM_011535735.1:c.228-74C>G | XP_011534037.1:n.228-74C>G | |
| XM_011535736.1:c.228-74C>G | XP_011534038.1:n.228-74C>G | |
| XM_011535737.1:c.228-74C>G | XP_011534039.1:n.228-74C>G | |
| XM_011535738.1:c.228-74C>G | XP_011534040.1:n.228-74C>G | |
| NM_001350486.1:c.30-74C>G | NP_001337415.1:n.30-74C>G | |
| NM_001350487.1:c.-103-74C>G | NP_001337416.1:n.-103-74C>G | |
| NM_001350488.1:c.228-74C>G | NP_001337417.1:n.228-74C>G | |
| NM_001350489.1:c.228-74C>G | NP_001337418.1:n.228-74C>G | |
| NM_001350491.1:c.-103-74C>G | NP_001337420.1:n.-103-74C>G | |
| NM_001350492.1:c.-103-74C>G | NP_001337421.1:n.-103-74C>G | |
| NM_001350493.1:c.-103-74C>G | NP_001337422.1:n.-103-74C>G | |
| NR_146719.1:n.372-74C>G | ||
| NR_146720.1:n.1137-74C>G | ||
| XM_005266907.5:c.228-74C>G | XP_005266964.1:n.228-74C>G | |
| XM_005266911.5:c.228-74C>G | XP_005266968.1:n.228-74C>G | |
| XM_011535729.3:c.228-74C>G | XP_011534031.1:n.228-74C>G | |
| XM_011535730.2:c.30-74C>G | XP_011534032.1:n.30-74C>G | |
| XM_011535731.2:c.30-74C>G | XP_011534033.1:n.30-74C>G | |
| XM_011535732.2:c.-103-74C>G | XP_011534034.1:n.-103-74C>G | |
| XM_011535733.2:c.-103-74C>G | XP_011534035.1:n.-103-74C>G | |
| XM_011535734.2:c.-103-74C>G | XP_011534036.1:n.-103-74C>G | |
| XM_011535737.3:c.228-74C>G | XP_011534039.1:n.228-74C>G | |
| XM_011535738.3:c.228-74C>G | XP_011534040.1:n.228-74C>G | |
| XM_017010702.2:c.228-74C>G | XP_016866191.1:n.228-74C>G | |
| XM_017010703.2:c.228-74C>G | XP_016866192.1:n.228-74C>G | |
| XM_017010705.1:c.-103-74C>G | XP_016866194.1:n.-103-74C>G | |
| XM_024446395.1:c.123-74C>G | XP_024302163.1:n.123-74C>G | |
| XM_024446396.1:c.228-74C>G | XP_024302164.1:n.228-74C>G | |
| XR_001743322.2:n.367-74C>G | ||
| XR_002956274.1:n.367-74C>G | ||
| NM_001242769.2:c.228-74C>G | NP_001229698.1:n.228-74C>G | |
| NM_001350488.2:c.228-74C>G | NP_001337417.1:n.228-74C>G | |
| NM_001350489.2:c.228-74C>G | NP_001337418.1:n.228-74C>G | |
| NM_001350491.2:c.-103-74C>G | NP_001337420.1:n.-103-74C>G | |
| NM_001242767.2:c.228-74C>G | NP_001229696.1:n.228-74C>G | |
| NM_001242768.2:c.30-74C>G | NP_001229697.1:n.30-74C>G | |
| NM_001242769.3:c.228-74C>G | NP_001229698.1:n.228-74C>G | |
| NM_001350487.2:c.-103-74C>G | NP_001337416.1:n.-103-74C>G | |
| NM_001350488.3:c.228-74C>G | NP_001337417.1:n.228-74C>G | |
| NM_001350489.3:c.228-74C>G | NP_001337418.1:n.228-74C>G | |
| NM_001350491.3:c.-103-74C>G | NP_001337420.1:n.-103-74C>G | |
| NM_001350492.2:c.-103-74C>G | NP_001337421.1:n.-103-74C>G | |
| NM_015440.5:c.228-74C>G MANE Select | NP_056255.2:n.228-74C>G | |
| NR_146719.2:n.349-74C>G | ||
| NR_146720.2:n.1098-74C>G |