COSMIC:
COSN6558191 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.64350855 (AMR)
Genomes Max Group AF
0.64350855 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.44225251C>T , CM000664.2:g.44225251C>T | GRCh38 |
| NC_000002.11:g.44452390C>T , CM000664.1:g.44452390C>T | GRCh37 |
| NC_000002.10:g.44305894C>T | NCBI36 |
| NG_011678.1:g.61391C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282412.9:c.1135-5162C>T MANE Select | ENSP00000282412.4:n.1135-5162C>T | |
| ENST00000649044.1:c.1134+6714C>T | ENSP00000497083.1:n.1134+6714C>T | |
| ENST00000282412.8:c.1135-5162C>T | ENSP00000282412.4:n.1135-5162C>T | |
| ENST00000345249.8:c.274-5162C>T | ENSP00000326089.4:n.274-5162C>T | |
| ENST00000378540.8:n.1546+6714C>T | ||
| ENST00000378551.6:c.1134+6714C>T | ENSP00000367813.2:n.1134+6714C>T | |
| ENST00000409432.7:c.1135-4742C>T | ENSP00000387287.3:n.1135-4742C>T | |
| ENST00000459690.5:n.270+6714C>T | ||
| ENST00000487286.1:n.379+6714C>T | ||
| NM_001033557.2:c.1135-4742C>T | NP_001028729.1:n.1135-4742C>T | |
| NM_002706.5:c.1135-5162C>T | NP_002697.1:n.1135-5162C>T | |
| NM_177968.3:c.1134+6714C>T | NP_808907.1:n.1134+6714C>T | |
| NM_177969.3:c.274-5162C>T | NP_808908.1:n.274-5162C>T | |
| XM_011532936.1:c.1134+6714C>T | XP_011531238.1:n.1134+6714C>T | |
| XM_011532936.3:c.1134+6714C>T | XP_011531238.1:n.1134+6714C>T | |
| XM_017004395.2:c.1159-5162C>T | XP_016859884.1:n.1159-5162C>T | |
| XM_017004396.2:c.1158+6714C>T | XP_016859885.1:n.1158+6714C>T | |
| XM_017004397.2:c.1158+6714C>T | XP_016859886.1:n.1158+6714C>T | |
| NM_002706.6:c.1135-5162C>T MANE Select | NP_002697.1:n.1135-5162C>T | |
| NM_001033557.3:c.1135-4742C>T | NP_001028729.1:n.1135-4742C>T | |
| NM_177968.4:c.1134+6714C>T | NP_808907.1:n.1134+6714C>T | |
| NM_177969.4:c.274-5162C>T | NP_808908.1:n.274-5162C>T |