COSMIC:
COSN14903943 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.11292339 (NFE)
Genomes Max Group AF
0.11292339 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128317330A>C , CM000667.2:g.128317330A>C | GRCh38 |
| NC_000005.9:g.127653022A>C , CM000667.1:g.127653022A>C | GRCh37 |
| NC_000005.8:g.127680921A>C | NCBI36 |
| NG_008750.1:g.225714T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.1501+819T>G | ||
| ENST00000703785.1:n.1582+819T>G | ||
| ENST00000262464.9:c.4717+819T>G MANE Select | ENSP00000262464.4:n.4717+819T>G | |
| ENST00000262464.8:c.4717+819T>G | ENSP00000262464.4:n.4717+819T>G | |
| ENST00000508053.5:c.4717+819T>G | ENSP00000424571.1:n.4717+819T>G | |
| ENST00000619499.4:c.4714+819T>G | ENSP00000482132.1:n.4714+819T>G | |
| NM_001999.3:c.4717+819T>G | NP_001990.2:n.4717+819T>G | |
| XM_017009228.2:c.4564+819T>G | XP_016864717.1:n.4564+819T>G | |
| NM_001999.4:c.4717+819T>G MANE Select | NP_001990.2:n.4717+819T>G |