COSMIC:
COSN25488716 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.16836314 (AFR)
Genomes Max Group AF
0.16836314 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.208713876T>G , CM000664.2:g.208713876T>G | GRCh38 |
| NC_000002.11:g.209578600T>G , CM000664.1:g.209578600T>G | GRCh37 |
| NC_000002.10:g.209286845T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000419079.1:c.426+56887T>G | ||
| XR_241394.2:n.469+56887T>G | ||
| XR_923817.1:n.469+56887T>G | ||
| XR_923818.1:n.469+56887T>G | ||
| XR_923819.1:n.469+56887T>G | ||
| XR_923820.1:n.469+56887T>G | ||
| XR_923821.1:n.469+56887T>G | ||
| XR_923822.1:n.469+56887T>G | ||
| XR_923823.1:n.469+56887T>G | ||
| XR_923824.1:n.469+56887T>G | ||
| XR_923825.1:n.469+56887T>G | ||
| XR_923826.1:n.469+56887T>G | ||
| XR_923827.1:n.469+56887T>G | ||
| XR_923828.1:n.469+56887T>G | ||
| XR_923829.1:n.469+56887T>G | ||
| XR_923830.1:n.622+56887T>G | ||
| XR_923831.1:n.686+56887T>G | ||
| XR_923832.1:n.469+56887T>G | ||
| XR_923833.1:n.338+56887T>G | ||
| XR_923834.1:n.469+56887T>G | ||
| XR_923835.1:n.469+56887T>G | ||
| XR_923836.1:n.469+56887T>G | ||
| XR_923837.1:n.3005+56887T>G | ||
| XR_923838.1:n.239+56887T>G | ||
| NR_136588.1:n.669+56887T>G |