COSMIC:
COSN15304043 (not active)
COSN20053581 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.3972223 (MID)
Genomes Max Group AF
0.34437017 (AMR)
Exomes Max Group AF
0.39466581 (MID)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2422864C>G , CM000673.2:g.2422864C>G | GRCh38 |
| NC_000011.9:g.2444094C>G , CM000673.1:g.2444094C>G | GRCh37 |
| NC_000011.8:g.2400670C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696290.1:c.117+56G>C MANE Select | ENSP00000512529.1:n.117+56G>C | |
| ENST00000155858.10:c.117+56G>C | ENSP00000155858.5:n.117+56G>C | |
| ENST00000528453.1:c.117+56G>C | ENSP00000436809.1:n.117+56G>C | |
| ENST00000533060.5:c.117+56G>C | ENSP00000434121.1:n.117+56G>C | |
| ENST00000533881.5:c.93+56G>C | ENSP00000434383.1:n.93+56G>C | |
| NM_014555.3:c.117+56G>C | NP_055370.1:n.117+56G>C | |
| XM_011520035.1:c.378+56G>C | XP_011518337.1:n.378+56G>C | |
| XM_017017628.1:c.171+56G>C | XP_016873117.1:n.171+56G>C | |
| NM_014555.4:c.117+56G>C MANE Select | NP_055370.1:n.117+56G>C |