COSMIC:
COSN19648776 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.40734422 (SAS)
Genomes Max Group AF
0.39952954 (SAS)
Exomes Max Group AF
0.40693571 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.80746456T>G , CM000667.2:g.80746456T>G | GRCh38 |
| NC_000005.9:g.80042275T>G , CM000667.1:g.80042275T>G | GRCh37 |
| NC_000005.8:g.80078031T>G | NCBI36 |
| NG_016607.1:g.96982T>G | |
| NG_016607.2:g.96982T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265081.7:c.1763+1841T>G MANE Select | ENSP00000265081.6:n.1763+1841T>G | |
| ENST00000658259.1:c.1595+1841T>G | ENSP00000499617.1:n.1595+1841T>G | |
| ENST00000667069.1:c.1569-15090T>G | ENSP00000499502.1:n.1569-15090T>G | |
| ENST00000670357.1:c.1763+1841T>G | ENSP00000499791.1:n.1763+1841T>G | |
| ENST00000265081.6:c.1763+1841T>G | ENSP00000265081.6:n.1763+1841T>G | |
| ENST00000506122.1:n.364A>C | ||
| ENST00000512258.1:n.612+1841T>G | ||
| NM_002439.4:c.1763+1841T>G | NP_002430.3:n.1763+1841T>G | |
| NM_002439.5:c.1763+1841T>G MANE Select | NP_002430.3:n.1763+1841T>G |