COSMIC:
COSN17936018 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.29164635 (NFE)
Genomes Max Group AF
0.29164635 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.105263455G>A , CM000676.2:g.105263455G>A | GRCh38 |
| NC_000014.8:g.105729792G>A , CM000676.1:g.105729792G>A | GRCh37 |
| NC_000014.7:g.104800837G>A | NCBI36 |
| NG_029489.1:g.57123C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000547530.7:c.440-6906C>T MANE Select | ENSP00000448387.2:n.440-6906C>T | |
| ENST00000327359.7:c.95-6906C>T | ENSP00000329029.3:n.95-6906C>T | |
| ENST00000379937.6:c.359-6906C>T | ENSP00000369269.2:n.359-6906C>T | |
| ENST00000440513.7:c.95-6906C>T | ENSP00000388877.3:n.95-6906C>T | |
| ENST00000546417.5:c.105-22041C>T | ||
| ENST00000547530.6:c.440-6906C>T | ENSP00000448387.2:n.440-6906C>T | |
| ENST00000548421.2:c.440-6906C>T | ENSP00000446707.1:n.440-6906C>T | |
| ENST00000550692.1:c.95-6906C>T | ENSP00000448823.1:n.95-6906C>T | |
| ENST00000619151.4:c.-173-6906C>T | ENSP00000480452.1:n.-173-6906C>T | |
| NM_001242786.1:c.95-6906C>T | NP_001229715.1:n.95-6906C>T | |
| NM_001242787.1:c.95-6906C>T | NP_001229716.1:n.95-6906C>T | |
| NM_001242788.1:c.359-6906C>T | NP_001229717.1:n.359-6906C>T | |
| NM_001242790.1:c.440-6906C>T | NP_001229719.1:n.440-6906C>T | |
| NM_001519.3:c.440-6906C>T | NP_001510.2:n.440-6906C>T | |
| XM_005267561.3:c.440-6906C>T | XP_005267618.1:n.440-6906C>T | |
| XM_011536672.1:c.440-6906C>T | XP_011534974.1:n.440-6906C>T | |
| XM_011536673.1:c.440-6906C>T | XP_011534975.1:n.440-6906C>T | |
| XM_005267561.4:c.440-6906C>T | XP_005267618.1:n.440-6906C>T | |
| XM_011536672.3:c.440-6906C>T | XP_011534974.1:n.440-6906C>T | |
| XM_011536673.2:c.440-6906C>T | XP_011534975.1:n.440-6906C>T | |
| NM_001519.4:c.440-6906C>T MANE Select | NP_001510.2:n.440-6906C>T | |
| NM_001242788.2:c.359-6906C>T | NP_001229717.1:n.359-6906C>T | |
| NM_001242790.2:c.440-6906C>T | NP_001229719.1:n.440-6906C>T | |
| NM_001242786.2:c.95-6906C>T | NP_001229715.1:n.95-6906C>T | |
| NM_001242787.2:c.95-6906C>T | NP_001229716.1:n.95-6906C>T |