COSMIC:
COSM4145314 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.95681262 (EAS)
Genomes Max Group AF
0.9385935 (EAS)
Exomes Max Group AF
0.95678688 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.113399652C>T , CM000673.2:g.113399652C>T | GRCh38 |
| NC_000011.9:g.113270374C>T , CM000673.1:g.113270374C>T | GRCh37 |
| NC_000011.8:g.112775584C>T | NCBI36 |
| NG_012976.1:g.16862C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303941.4:c.1683C>T MANE Select | ENSP00000306678.3:p.Tyr561= | |
| ENST00000303941.3:c.1683C>T | ENSP00000306678.3:p.Tyr561= | |
| NM_178510.1:c.1683C>T | NP_848605.1:p.Tyr561= | |
| XM_011542736.1:c.1716C>T | XP_011541038.1:p.Tyr572= | |
| XM_011542737.1:c.1686C>T | XP_011541039.1:p.Tyr562= | |
| XM_011542738.1:c.1494C>T | XP_011541040.1:p.Tyr498= | |
| XM_011542736.2:c.1716C>T | XP_011541038.1:p.Tyr572= | |
| XM_011542737.2:c.1686C>T | XP_011541039.1:p.Tyr562= | |
| XM_011542738.2:c.1494C>T | XP_011541040.1:p.Tyr498= | |
| XM_017017475.1:c.1713C>T | XP_016872964.1:p.Tyr571= | |
| NM_178510.2:c.1683C>T MANE Select | NP_848605.1:p.Tyr561= |