COSMIC:
COSN14845868 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.33796654 (EAS)
Genomes Max Group AF
0.33796654 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.146849865G>A , CM000667.2:g.146849865G>A | GRCh38 |
| NC_000005.9:g.146229428G>A , CM000667.1:g.146229428G>A | GRCh37 |
| NC_000005.8:g.146209621G>A | NCBI36 |
| NG_011570.1:g.236606C>T | |
| NG_011570.2:g.236606C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394411.9:c.70+28137C>T MANE Select | ENSP00000377933.3:n.70+28137C>T | |
| ENST00000336640.10:c.80-148723C>T | ENSP00000336591.6:n.80-148723C>T | |
| ENST00000394409.7:c.70+28137C>T | ENSP00000377931.4:n.70+28137C>T | |
| ENST00000394411.8:c.70+28137C>T | ENSP00000377933.3:n.70+28137C>T | |
| ENST00000394413.7:c.244+28137C>T | ENSP00000377935.4:n.244+28137C>T | |
| ENST00000394414.5:c.268+28137C>T | ENSP00000377936.1:n.268+28137C>T | |
| ENST00000453001.5:c.37+6634C>T | ENSP00000398779.2:n.37+6634C>T | |
| ENST00000502876.1:n.362+69819C>T | ||
| ENST00000504198.5:c.89-148723C>T | ENSP00000421396.1:n.89-148723C>T | |
| ENST00000504565.1:c.*81+28137C>T | ENSP00000425413.1:n.*81+28137C>T | |
| ENST00000508267.5:c.11-148723C>T | ENSP00000421224.1:n.11-148723C>T | |
| ENST00000508545.6:c.37+6634C>T | ENSP00000431320.1:n.37+6634C>T | |
| ENST00000509721.1:n.474+28137C>T | ||
| ENST00000512011.5:c.*19-148723C>T | ENSP00000424409.1:n.*19-148723C>T | |
| ENST00000512639.5:c.*20+6634C>T | ENSP00000426599.1:n.*20+6634C>T | |
| ENST00000515880.5:c.*28-148723C>T | ENSP00000421577.1:n.*28-148723C>T | |
| ENST00000520231.1:n.198+72460C>T | ||
| ENST00000522831.1:n.352+6634C>T | ||
| ENST00000528601.5:c.*20+6634C>T | ENSP00000433890.1:n.*20+6634C>T | |
| ENST00000530902.5:n.388+28137C>T | ||
| ENST00000532154.5:c.*20+6634C>T | ENSP00000434497.1:n.*20+6634C>T | |
| NM_001271899.1:c.89-148723C>T | NP_001258828.1:n.89-148723C>T | |
| NM_001271900.1:c.244+28137C>T | NP_001258829.1:n.244+28137C>T | |
| NM_001271948.1:c.37+6634C>T | NP_001258877.1:n.37+6634C>T | |
| NM_181674.2:c.268+28137C>T | NP_858060.2:n.268+28137C>T | |
| NM_181675.3:c.388+28137C>T | NP_858061.2:n.388+28137C>T | |
| NM_181676.2:c.80-148723C>T | NP_858062.1:n.80-148723C>T | |
| NM_181677.2:c.11-148723C>T | NP_858063.1:n.11-148723C>T | |
| NM_181678.2:c.37+6634C>T | NP_858064.1:n.37+6634C>T | |
| NR_073526.1:n.784+28137C>T | ||
| NR_073527.1:n.421+28137C>T | ||
| NM_001271900.2:c.244+28137C>T | NP_001258829.1:n.244+28137C>T | |
| NR_073526.2:n.756+28137C>T | ||
| NM_001271948.2:c.37+6634C>T | NP_001258877.1:n.37+6634C>T | |
| NM_181674.3:c.268+28137C>T | NP_858060.2:n.268+28137C>T | |
| NM_181675.4:c.70+28137C>T MANE Select | NP_858061.3:n.70+28137C>T | |
| NM_181676.3:c.80-148723C>T | NP_858062.1:n.80-148723C>T | |
| NR_073527.2:n.251+28137C>T |