COSMIC:
COSN20483843 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.34710325 (EAS)
Genomes Max Group AF
0.34710325 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.3658418T>C , CM000670.2:g.3658418T>C | GRCh38 |
| NC_000008.10:g.3515940T>C , CM000670.1:g.3515940T>C | GRCh37 |
| NC_000008.9:g.3503348T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000635120.2:c.1010-41621A>G MANE Select | ENSP00000489225.1:n.1010-41621A>G | |
| ENST00000400186.7:c.1010-41621A>G | ENSP00000383047.3:n.1010-41621A>G | |
| ENST00000520002.5:c.1010-41621A>G | ENSP00000430733.1:n.1010-41621A>G | |
| ENST00000537824.2:c.596-41621A>G | ENSP00000441462.2:n.596-41621A>G | |
| ENST00000602557.5:c.1010-41621A>G | ENSP00000473359.1:n.1010-41621A>G | |
| ENST00000602723.5:c.1010-41621A>G | ENSP00000473617.1:n.1010-41621A>G | |
| ENST00000635120.1:c.1010-41621A>G | ENSP00000489225.1:n.1010-41621A>G | |
| NM_033225.5:c.1010-41621A>G | NP_150094.5:n.1010-41621A>G | |
| XM_011534752.1:c.1010-41621A>G | XP_011533054.1:n.1010-41621A>G | |
| XM_011534752.2:c.1010-41621A>G | XP_011533054.1:n.1010-41621A>G | |
| XM_017013731.1:c.1010-41621A>G | XP_016869220.1:n.1010-41621A>G | |
| NM_033225.6:c.1010-41621A>G MANE Select | NP_150094.5:n.1010-41621A>G |