COSMIC:
COSN14962367 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.32496249 (EAS)
Genomes Max Group AF
0.32496249 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.102018522C>T , CM000668.2:g.102018522C>T | GRCh38 |
| NC_000006.11:g.102466397C>T , CM000668.1:g.102466397C>T | GRCh37 |
| NC_000006.10:g.102573090C>T | NCBI36 |
| NG_009224.2:g.624493C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681975.1:c.2086-16819C>T | ENSP00000508014.1:n.2086-16819C>T | |
| ENST00000682039.1:n.4341-16819C>T | ||
| ENST00000682090.1:c.2086-16819C>T | ENSP00000508130.1:n.2086-16819C>T | |
| ENST00000682115.1:c.*258-16819C>T | ENSP00000508069.1:n.*258-16819C>T | |
| ENST00000682222.1:c.*180-16819C>T | ENSP00000506840.1:n.*180-16819C>T | |
| ENST00000682312.1:n.830-49825C>T | ||
| ENST00000682716.1:n.2471-16819C>T | ||
| ENST00000682962.1:n.4341-16819C>T | ||
| ENST00000683054.1:n.721-16819C>T | ||
| ENST00000683208.1:c.*741-16819C>T | ENSP00000508151.1:n.*741-16819C>T | |
| ENST00000683215.1:c.2086-16819C>T | ENSP00000507424.1:n.2086-16819C>T | |
| ENST00000683264.1:n.981-16819C>T | ||
| ENST00000683298.1:n.4341-16819C>T | ||
| ENST00000683618.1:n.4341-16819C>T | ||
| ENST00000683806.1:c.*2113-16819C>T | ENSP00000506783.1:n.*2113-16819C>T | |
| ENST00000683903.1:c.1858-16819C>T | ENSP00000507071.1:n.1858-16819C>T | |
| ENST00000683913.1:n.2228-16819C>T | ||
| ENST00000684068.1:c.2086-16819C>T | ENSP00000508175.1:n.2086-16819C>T | |
| ENST00000684380.1:n.4341-16819C>T | ||
| ENST00000369134.9:c.2086-16819C>T MANE Select | ENSP00000358130.6:n.2086-16819C>T | |
| ENST00000369137.8:c.*2077-16819C>T | ENSP00000358133.5:n.*2077-16819C>T | |
| ENST00000421544.6:c.2086-16819C>T | ENSP00000397026.1:n.2086-16819C>T | |
| ENST00000318991.10:c.1972-16819C>T | ENSP00000313276.7:n.1972-16819C>T | |
| ENST00000369134.8:c.1972-16819C>T | ENSP00000358130.5:n.1972-16819C>T | |
| ENST00000369137.7:c.1972-16819C>T | ENSP00000358133.4:n.1972-16819C>T | |
| ENST00000369138.5:c.2086-16819C>T | ENSP00000358134.1:n.2086-16819C>T | |
| ENST00000413795.5:c.2086-16819C>T | ENSP00000405596.1:n.2086-16819C>T | |
| ENST00000421544.5:c.2086-16819C>T | ENSP00000397026.1:n.2086-16819C>T | |
| ENST00000487161.1:n.491-16819C>T | ||
| NM_001166247.1:c.2086-16819C>T | NP_001159719.1:n.2086-16819C>T | |
| NM_021956.4:c.2086-16819C>T | NP_068775.1:n.2086-16819C>T | |
| NM_175768.3:c.2086-16819C>T | NP_786944.1:n.2086-16819C>T | |
| XM_005266945.2:c.2086-16819C>T | XP_005267002.1:n.2086-16819C>T | |
| XM_005266946.2:c.1939-16819C>T | XP_005267003.1:n.1939-16819C>T | |
| XM_011535777.1:c.2086-16819C>T | XP_011534079.1:n.2086-16819C>T | |
| XM_011535778.1:c.2086-16819C>T | XP_011534080.1:n.2086-16819C>T | |
| XM_011535779.1:c.1858-16819C>T | XP_011534081.1:n.1858-16819C>T | |
| XM_005266946.4:c.1939-16819C>T | XP_005267003.1:n.1939-16819C>T | |
| XM_011535777.3:c.2086-16819C>T | XP_011534079.1:n.2086-16819C>T | |
| XM_024446410.1:c.2086-16819C>T | XP_024302178.1:n.2086-16819C>T | |
| XM_024446411.1:c.2086-16819C>T | XP_024302179.1:n.2086-16819C>T | |
| XR_002956278.1:n.2509-16819C>T | ||
| NM_021956.5:c.2086-16819C>T MANE Select | NP_068775.1:n.2086-16819C>T |