COSMIC:
COSN17135883 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.04438675 (NFE)
Genomes Max Group AF
0.04360548 (NFE)
Exomes Max Group AF
0.04436347 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40351852G>T , CM000679.2:g.40351852G>T | GRCh38 |
| NC_000017.10:g.38508104G>T , CM000679.1:g.38508104G>T | GRCh37 |
| NC_000017.9:g.35761630G>T | NCBI36 |
| NG_027701.1:g.47682G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254066.10:c.470-58G>T MANE Select | ENSP00000254066.5:n.470-58G>T | |
| ENST00000254066.9:c.470-58G>T | ENSP00000254066.5:n.470-58G>T | |
| ENST00000394081.7:c.455-58G>T | ENSP00000377643.3:n.455-58G>T | |
| ENST00000394086.7:c.518-58G>T | ENSP00000377648.3:n.518-58G>T | |
| ENST00000394089.6:c.470-58G>T | ENSP00000377649.2:n.470-58G>T | |
| ENST00000420042.1:n.146-58G>T | ||
| ENST00000425707.7:c.179-58G>T | ENSP00000389993.3:n.179-58G>T | |
| ENST00000475125.1:c.113-58G>T | ENSP00000462514.1:n.113-58G>T | |
| NM_000964.3:c.470-58G>T | NP_000955.1:n.470-58G>T | |
| NM_001024809.3:c.455-58G>T | NP_001019980.1:n.455-58G>T | |
| NM_001145301.2:c.470-58G>T | NP_001138773.1:n.470-58G>T | |
| NM_001145302.2:c.179-58G>T | NP_001138774.1:n.179-58G>T | |
| XM_005257552.3:c.518-58G>T | XP_005257609.1:n.518-58G>T | |
| XM_005257553.1:c.470-58G>T | XP_005257610.1:n.470-58G>T | |
| XM_005257554.1:c.470-58G>T | XP_005257611.1:n.470-58G>T | |
| XM_011525095.1:c.470-58G>T | XP_011523397.1:n.470-58G>T | |
| XM_011525096.1:c.296-58G>T | XP_011523398.1:n.296-58G>T | |
| XM_005257552.5:c.518-58G>T | XP_005257609.1:n.518-58G>T | |
| XM_017024920.2:c.113-58G>T | XP_016880409.1:n.113-58G>T | |
| NM_000964.4:c.470-58G>T MANE Select | NP_000955.1:n.470-58G>T | |
| NM_001024809.4:c.455-58G>T | NP_001019980.1:n.455-58G>T | |
| NM_001145301.3:c.470-58G>T | NP_001138773.1:n.470-58G>T | |
| NM_001145302.3:c.179-58G>T | NP_001138774.1:n.179-58G>T |