COSMIC:
COSN19641620 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.91632742 (AFR)
Genomes Max Group AF
0.91060294 (AFR)
Exomes Max Group AF
0.91842398 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.38067645T>G , CM000684.2:g.38067645T>G | GRCh38 |
| NC_000022.10:g.38463652T>G , CM000684.1:g.38463652T>G | GRCh37 |
| NC_000022.9:g.36793598T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356976.8:c.283-59T>G MANE Select | ENSP00000349465.3:n.283-59T>G | |
| ENST00000356976.7:c.283-59T>G | ENSP00000349465.3:n.283-59T>G | |
| ENST00000404072.7:c.283-59T>G | ENSP00000385205.3:n.283-59T>G | |
| ENST00000424694.5:c.283-59T>G | ENSP00000398141.1:n.283-59T>G | |
| ENST00000426258.5:c.*15-1388T>G | ENSP00000413962.1:n.*15-1388T>G | |
| ENST00000432756.6:c.*15-59T>G | ENSP00000387861.2:n.*15-59T>G | |
| ENST00000435166.1:c.283-59T>G | ENSP00000397588.1:n.283-59T>G | |
| ENST00000437453.5:c.283-59T>G | ENSP00000410793.1:n.283-59T>G | |
| ENST00000466374.1:n.445-59T>G | ||
| ENST00000468288.5:n.359-59T>G | ||
| ENST00000472724.5:n.19-59T>G | ||
| ENST00000484021.5:n.522-59T>G | ||
| ENST00000494434.1:n.169T>G | ||
| NM_001039583.1:c.283-59T>G | NP_001034672.1:n.283-59T>G | |
| NM_001039584.1:c.283-59T>G | NP_001034673.1:n.283-59T>G | |
| NM_012407.3:c.283-59T>G | NP_036539.1:n.283-59T>G | |
| XM_006724379.1:c.-35-1388T>G | XP_006724442.1:n.-35-1388T>G | |
| XM_006724380.1:c.-35-1388T>G | XP_006724443.1:n.-35-1388T>G | |
| XM_011530517.1:c.283-59T>G | XP_011528819.1:n.283-59T>G | |
| XR_937962.1:n.744-59T>G | ||
| XM_006724379.2:c.-35-1388T>G | XP_006724442.1:n.-35-1388T>G | |
| XM_006724380.2:c.-35-1388T>G | XP_006724443.1:n.-35-1388T>G | |
| XM_011530517.3:c.283-59T>G | XP_011528819.1:n.283-59T>G | |
| XM_017029090.1:c.-144-59T>G | XP_016884579.1:n.-144-59T>G | |
| XM_017029091.1:c.19-59T>G | XP_016884580.1:n.19-59T>G | |
| XM_017029092.1:c.-144-59T>G | XP_016884581.1:n.-144-59T>G | |
| XM_017029093.1:c.-35-1388T>G | XP_016884582.1:n.-35-1388T>G | |
| XM_017029094.1:c.-35-1388T>G | XP_016884583.1:n.-35-1388T>G | |
| XR_002958723.1:n.434-59T>G | ||
| XR_002958724.1:n.526-59T>G | ||
| XR_002958725.1:n.428-59T>G | ||
| XR_002958726.1:n.800-59T>G | ||
| XR_002958727.1:n.800-59T>G | ||
| NM_012407.4:c.283-59T>G MANE Select | NP_036539.1:n.283-59T>G |