COSMIC:
COSN24483925 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.09674317 (NFE)
Genomes Max Group AF
0.09674317 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161514420T>C , CM000663.2:g.161514420T>C | GRCh38 |
| NC_000001.10:g.161484210T>C , CM000663.1:g.161484210T>C | GRCh37 |
| NC_000001.9:g.159750834T>C | NCBI36 |
| NG_012066.1:g.14006T>C | |
| NG_012066.2:g.14006T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699277.1:c.657+488T>C | ENSP00000514258.1:n.657+488T>C | |
| ENST00000699278.1:c.522+488T>C | ENSP00000514259.1:n.522+488T>C | |
| ENST00000699279.1:c.363+488T>C | ENSP00000514260.1:n.363+488T>C | |
| ENST00000271450.12:c.780+488T>C MANE Select | ENSP00000271450.6:n.780+488T>C | |
| ENST00000271450.10:c.780+488T>C | ENSP00000271450.6:n.780+488T>C | |
| ENST00000367972.8:c.777+488T>C | ENSP00000356949.4:n.777+488T>C | |
| ENST00000459885.1:c.35+488T>C | ||
| ENST00000461298.1:n.189+488T>C | ||
| ENST00000467525.5:c.630+3464T>C | ENSP00000476495.1:n.630+3464T>C | |
| ENST00000471026.5:n.350+488T>C | ||
| ENST00000483665.6:c.*482+488T>C | ENSP00000440148.1:n.*482+488T>C | |
| NM_001136219.1:c.780+488T>C | NP_001129691.1:n.780+488T>C | |
| NM_021642.3:c.777+488T>C | NP_067674.2:n.777+488T>C | |
| XM_011509287.1:c.780+488T>C | XP_011507589.1:n.780+488T>C | |
| XM_011509288.1:c.777+488T>C | XP_011507590.1:n.777+488T>C | |
| XM_011509289.1:c.657+488T>C | XP_011507591.1:n.657+488T>C | |
| XM_011509290.1:c.780+488T>C | XP_011507592.1:n.780+488T>C | |
| XM_011509291.1:c.742+3464T>C | XP_011507593.1:n.742+3464T>C | |
| XM_011509287.2:c.780+488T>C | XP_011507589.1:n.780+488T>C | |
| XM_011509290.2:c.780+488T>C | XP_011507592.1:n.780+488T>C | |
| XM_017000663.2:c.777+488T>C | XP_016856152.1:n.777+488T>C | |
| XM_017000664.1:c.780+488T>C | XP_016856153.1:n.780+488T>C | |
| XM_017000665.1:c.780+488T>C | XP_016856154.1:n.780+488T>C | |
| XM_017000666.1:c.657+488T>C | XP_016856155.1:n.657+488T>C | |
| XM_017000667.1:c.657+488T>C | XP_016856156.1:n.657+488T>C | |
| XM_017000668.2:c.654+488T>C | XP_016856157.1:n.654+488T>C | |
| XM_024454040.1:c.363+488T>C | XP_024309808.1:n.363+488T>C | |
| XM_024454041.1:c.363+488T>C | XP_024309809.1:n.363+488T>C | |
| XR_001737042.1:n.818+488T>C | ||
| NM_001136219.3:c.780+488T>C MANE Select | NP_001129691.1:n.780+488T>C | |
| NM_001375296.1:c.657+488T>C | NP_001362225.1:n.657+488T>C | |
| NM_001375297.1:c.654+488T>C | NP_001362226.1:n.654+488T>C | |
| NM_021642.5:c.777+488T>C | NP_067674.2:n.777+488T>C |