COSMIC:
COSN164785 (not active)
COSN26726991 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.21461177 (AFR)
Genomes Max Group AF
0.21306522 (AFR)
Exomes Max Group AF
0.21402588 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.101894408T>C , CM000676.2:g.101894408T>C | GRCh38 |
| NC_000014.8:g.102360745T>C , CM000676.1:g.102360745T>C | GRCh37 |
| NC_000014.7:g.101430498T>C | NCBI36 |
| NG_047069.1:g.138836T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000694906.1:c.964-99T>C MANE Select | ENSP00000511581.1:n.964-99T>C | |
| ENST00000328724.9:c.964-99T>C | ENSP00000329009.5:n.964-99T>C | |
| ENST00000334743.9:c.799-99T>C | ENSP00000333905.4:n.799-99T>C | |
| ENST00000350249.7:c.799-99T>C | ENSP00000262239.5:n.799-99T>C | |
| ENST00000422945.6:c.892-99T>C | ENSP00000412324.2:n.892-99T>C | |
| ENST00000445439.7:c.799-99T>C | ENSP00000408389.3:n.799-99T>C | |
| ENST00000554137.5:c.374-99T>C | ENSP00000450743.1:n.374-99T>C | |
| ENST00000556218.5:n.461-99T>C | ||
| ENST00000557095.5:c.799-99T>C | ENSP00000451179.1:n.799-99T>C | |
| ENST00000557268.5:c.886-99T>C | ENSP00000450931.1:n.886-99T>C | |
| ENST00000557534.1:c.500-99T>C | ENSP00000452533.1:n.500-99T>C | |
| ENST00000557716.2:c.196-99T>C | ENSP00000452124.2:n.196-99T>C | |
| NM_001161725.1:c.892-99T>C | NP_001155197.1:n.892-99T>C | |
| NM_001161726.1:c.964-99T>C | NP_001155198.1:n.964-99T>C | |
| NM_002719.3:c.799-99T>C | NP_002710.2:n.799-99T>C | |
| NM_178586.2:c.799-99T>C | NP_848701.1:n.799-99T>C | |
| NM_178587.2:c.799-99T>C | NP_848702.1:n.799-99T>C | |
| XM_005267819.1:c.979-99T>C | XP_005267876.1:n.979-99T>C | |
| XM_005267820.1:c.964-99T>C | XP_005267877.1:n.964-99T>C | |
| XM_005267822.3:c.979-99T>C | XP_005267879.1:n.979-99T>C | |
| XM_005267823.1:c.979-99T>C | XP_005267880.1:n.979-99T>C | |
| XM_005267824.1:c.979-99T>C | XP_005267881.1:n.979-99T>C | |
| XM_005267826.1:c.727-99T>C | XP_005267883.1:n.727-99T>C | |
| XM_005267827.1:c.574-99T>C | XP_005267884.1:n.574-99T>C | |
| XM_011536914.1:c.853-99T>C | XP_011535216.1:n.853-99T>C | |
| XM_011536915.1:c.772-99T>C | XP_011535217.1:n.772-99T>C | |
| XM_011536916.1:c.772-99T>C | XP_011535218.1:n.772-99T>C | |
| XM_011536917.1:c.751-99T>C | XP_011535219.1:n.751-99T>C | |
| XM_011536918.1:c.751-99T>C | XP_011535220.1:n.751-99T>C | |
| XM_011536919.1:c.751-99T>C | XP_011535221.1:n.751-99T>C | |
| XM_011536920.1:c.574-99T>C | XP_011535222.1:n.574-99T>C | |
| XM_011536921.1:c.781-99T>C | XP_011535223.1:n.781-99T>C | |
| NM_001352912.1:c.799-99T>C | NP_001339841.1:n.799-99T>C | |
| NM_001352913.1:c.964-99T>C | NP_001339842.1:n.964-99T>C | |
| NM_001352914.1:c.979-99T>C | NP_001339843.1:n.979-99T>C | |
| NM_001352915.1:c.574-99T>C | NP_001339844.1:n.574-99T>C | |
| NM_001352916.1:c.574-99T>C | NP_001339845.1:n.574-99T>C | |
| XM_017021423.2:c.799-99T>C | XP_016876912.1:n.799-99T>C | |
| NM_001161726.2:c.964-99T>C | NP_001155198.1:n.964-99T>C | |
| NM_001352913.2:c.964-99T>C MANE Select | NP_001339842.1:n.964-99T>C | |
| NM_001352914.2:c.979-99T>C | NP_001339843.1:n.979-99T>C | |
| NM_001352916.2:c.574-99T>C | NP_001339845.1:n.574-99T>C | |
| NM_002719.4:c.799-99T>C | NP_002710.2:n.799-99T>C | |
| NM_178586.3:c.799-99T>C | NP_848701.1:n.799-99T>C | |
| NM_178587.3:c.799-99T>C | NP_848702.1:n.799-99T>C | |
| NM_001161725.2:c.892-99T>C | NP_001155197.1:n.892-99T>C | |
| NM_001352915.2:c.574-99T>C | NP_001339844.1:n.574-99T>C |