COSMIC:
COSN16887787 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.77295732 (NFE)
Genomes Max Group AF
0.77295013 (NFE)
Exomes Max Group AF
0.56826256 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44115817G>C , CM000679.2:g.44115817G>C | GRCh38 |
| NC_000017.10:g.42193185G>C , CM000679.1:g.42193185G>C | GRCh37 |
| NC_000017.9:g.39548711G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682912.1:c.22+1677C>G MANE Select | ENSP00000507606.1:n.22+1677C>G | |
| ENST00000225983.10:c.22+1677C>G | ENSP00000225983.5:n.22+1677C>G | |
| ENST00000336057.9:c.22+1677C>G | ENSP00000337290.4:n.22+1677C>G | |
| ENST00000586802.5:c.22+1677C>G | ENSP00000468004.1:n.22+1677C>G | |
| ENST00000587135.1:c.-8-5014C>G | ENSP00000465393.1:n.-8-5014C>G | |
| ENST00000588703.5:c.-8-5014C>G | ENSP00000465229.1:n.-8-5014C>G | |
| NM_001015053.1:c.22+1677C>G | NP_001015053.1:n.22+1677C>G | |
| NM_005474.4:c.22+1677C>G | NP_005465.2:n.22+1677C>G | |
| XM_005256904.3:c.22+1677C>G | XP_005256961.1:n.22+1677C>G | |
| XM_005256905.1:c.22+1677C>G | XP_005256962.1:n.22+1677C>G | |
| XM_005256906.3:c.22+1677C>G | XP_005256963.1:n.22+1677C>G | |
| XM_005256907.1:c.22+1677C>G | XP_005256964.1:n.22+1677C>G | |
| XM_011524149.1:c.22+1677C>G | XP_011522451.1:n.22+1677C>G | |
| XM_011524150.1:c.-5-5017C>G | XP_011522452.1:n.-5-5017C>G | |
| XM_011525565.1:c.330G>C | XP_011523867.1:p.Arg110Ser | |
| XR_934338.1:n.352+1677C>G | ||
| XR_934774.1:n.3370G>C | ||
| XR_934775.1:n.3370G>C | ||
| XR_934776.1:n.2876G>C | ||
| XR_934777.1:n.1475G>C | ||
| XM_005256905.2:c.22+1677C>G | XP_005256962.1:n.22+1677C>G | |
| XM_005256906.4:c.22+1677C>G | XP_005256963.1:n.22+1677C>G | |
| XM_011524149.2:c.22+1677C>G | XP_011522451.1:n.22+1677C>G | |
| XM_017023988.1:c.22+1677C>G | XP_016879477.1:n.22+1677C>G | |
| XM_017023989.1:c.22+1677C>G | XP_016879478.1:n.22+1677C>G | |
| XM_017023990.1:c.22+1677C>G | XP_016879479.1:n.22+1677C>G | |
| XM_017023991.1:c.22+1677C>G | XP_016879480.1:n.22+1677C>G | |
| XM_017023992.1:c.22+1677C>G | XP_016879481.1:n.22+1677C>G | |
| XM_017023993.1:c.22+1677C>G | XP_016879482.1:n.22+1677C>G | |
| XM_017023996.1:c.-283+1677C>G | XP_016879485.1:n.-283+1677C>G | |
| NM_001015053.2:c.22+1677C>G | NP_001015053.1:n.22+1677C>G | |
| NM_005474.5:c.22+1677C>G MANE Select | NP_005465.2:n.22+1677C>G | |
| NM_001382393.1:c.22+1677C>G | NP_001369322.1:n.22+1677C>G |