COSMIC:
COSN19768057 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.38409334 (AFR)
Genomes Max Group AF
0.37516737 (AFR)
Exomes Max Group AF
0.39308558 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.87515500G>C , CM000669.2:g.87515500G>C | GRCh38 |
| NC_000007.13:g.87144816G>C , CM000669.1:g.87144816G>C | GRCh37 |
| NC_000007.12:g.86982752G>C | NCBI36 |
| NG_011513.1:g.202749C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265724.8:c.3085-72C>G | ENSP00000265724.3:n.3085-72C>G | |
| ENST00000622132.5:c.3085-72C>G MANE Select | ENSP00000478255.1:n.3085-72C>G | |
| ENST00000265724.7:c.3085-72C>G | ENSP00000265724.3:n.3085-72C>G | |
| ENST00000475929.5:n.241-72C>G | ||
| ENST00000488737.6:n.727-72C>G | ||
| ENST00000496821.5:n.713-72C>G | ||
| ENST00000543898.5:c.2893-72C>G | ENSP00000444095.1:n.2893-72C>G | |
| ENST00000622132.4:c.3085-72C>G | ENSP00000478255.1:n.3085-72C>G | |
| NM_000927.4:c.3085-72C>G | NP_000918.2:n.3085-72C>G | |
| NM_001348944.1:c.3085-72C>G | NP_001335873.1:n.3085-72C>G | |
| NM_001348945.1:c.3295-72C>G | NP_001335874.1:n.3295-72C>G | |
| NM_001348946.1:c.3085-72C>G | NP_001335875.1:n.3085-72C>G | |
| NM_001348946.2:c.3085-72C>G MANE Select | NP_001335875.1:n.3085-72C>G | |
| NM_000927.5:c.3085-72C>G | NP_000918.2:n.3085-72C>G | |
| NM_001348944.2:c.3085-72C>G | NP_001335873.1:n.3085-72C>G | |
| NM_001348945.2:c.3295-72C>G | NP_001335874.1:n.3295-72C>G |