COSMIC:
COSN19748044 (not active)
COSN26731521 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.38399545 (SAS)
Genomes Max Group AF
0.38058873 (SAS)
Exomes Max Group AF
0.3834134 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.124851984T>C , CM000669.2:g.124851984T>C | GRCh38 |
| NC_000007.13:g.124492038T>C , CM000669.1:g.124492038T>C | GRCh37 |
| NC_000007.12:g.124279274T>C | NCBI36 |
| NG_029232.1:g.83000A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357628.8:c.870-33A>G MANE Select | ENSP00000350249.3:n.870-33A>G | |
| ENST00000430927.6:c.870-33A>G | ENSP00000397632.2:n.870-33A>G | |
| ENST00000446993.6:c.477-33A>G | ENSP00000388921.2:n.477-33A>G | |
| ENST00000653241.1:c.870-33A>G | ENSP00000499476.1:n.870-33A>G | |
| ENST00000653274.1:c.870-33A>G | ENSP00000499382.1:n.870-33A>G | |
| ENST00000653819.1:c.*601-33A>G | ENSP00000499533.1:n.*601-33A>G | |
| ENST00000653892.1:c.*512-33A>G | ENSP00000499506.1:n.*512-33A>G | |
| ENST00000654766.1:c.870-33A>G | ENSP00000499395.1:n.870-33A>G | |
| ENST00000655761.1:c.870-33A>G | ENSP00000499635.1:n.870-33A>G | |
| ENST00000657333.1:c.*601-33A>G | ENSP00000499425.1:n.*601-33A>G | |
| ENST00000657892.1:c.*739-33A>G | ENSP00000499524.1:n.*739-33A>G | |
| ENST00000661898.1:c.870-33A>G | ENSP00000499528.1:n.870-33A>G | |
| ENST00000662531.1:c.*765-33A>G | ENSP00000499488.1:n.*765-33A>G | |
| ENST00000664330.1:c.*601-33A>G | ENSP00000499781.1:n.*601-33A>G | |
| ENST00000664366.1:c.870-33A>G | ENSP00000499290.1:n.870-33A>G | |
| ENST00000668382.1:c.870-33A>G | ENSP00000499546.1:n.870-33A>G | |
| ENST00000357628.7:c.870-33A>G | ENSP00000350249.3:n.870-33A>G | |
| ENST00000393329.5:c.477-33A>G | ENSP00000377002.1:n.477-33A>G | |
| ENST00000607932.5:c.870-33A>G | ENSP00000476506.1:n.870-33A>G | |
| ENST00000608057.5:c.870-33A>G | ENSP00000476371.1:n.870-33A>G | |
| ENST00000608126.1:n.557-33A>G | ||
| ENST00000609106.5:c.870-33A>G | ENSP00000476981.1:n.870-33A>G | |
| ENST00000610141.1:c.262-33A>G | ||
| NM_001042594.1:c.477-33A>G | NP_001036059.1:n.477-33A>G | |
| NM_015450.2:c.870-33A>G | NP_056265.2:n.870-33A>G | |
| NR_003102.1:n.1471-33A>G | ||
| NR_003103.1:n.1471-33A>G | ||
| NR_003104.1:n.1471-33A>G | ||
| XM_006715917.2:c.870-33A>G | XP_006715980.1:n.870-33A>G | |
| XM_011516006.1:c.477-33A>G | XP_011514308.1:n.477-33A>G | |
| XM_011516007.1:c.477-33A>G | XP_011514309.1:n.477-33A>G | |
| XM_006715917.4:c.870-33A>G | XP_006715980.1:n.870-33A>G | |
| XM_017011942.2:c.477-33A>G | XP_016867431.1:n.477-33A>G | |
| XR_001744618.1:n.1461-33A>G | ||
| XR_001744619.2:n.1330-33A>G | ||
| NM_015450.3:c.870-33A>G MANE Select | NP_056265.2:n.870-33A>G | |
| NM_001042594.2:c.477-33A>G | NP_001036059.1:n.477-33A>G | |
| NR_003102.2:n.1313-33A>G | ||
| NR_003103.2:n.1313-33A>G | ||
| NR_003104.2:n.1313-33A>G |