COSMIC:
COSM3759788 (not active)
COSM3759789 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.6273157 (EAS)
Genomes Max Group AF
0.64255618 (EAS)
Exomes Max Group AF
0.62335602 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.13637835C>T , CM000665.2:g.13637835C>T | GRCh38 |
| NC_000003.11:g.13679335C>T , CM000665.1:g.13679335C>T | GRCh37 |
| NC_000003.10:g.13654336C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404922.8:c.3612C>T MANE Select | ENSP00000384169.3:p.Asp1204= | |
| ENST00000295760.11:c.3471C>T | ENSP00000295760.7:p.Asp1157= | |
| ENST00000295761.11:c.254-262C>T | ||
| ENST00000404922.7:c.3612C>T | ENSP00000384169.3:p.Asp1204= | |
| ENST00000421373.1:c.135+263C>T | ||
| ENST00000492059.5:c.3612C>T | ENSP00000420042.1:p.Asp1204= | |
| NM_001004019.1:c.3612C>T | NP_001004019.1:p.Asp1204= | |
| NM_001165035.1:c.3612C>T | NP_001158507.1:p.Asp1204= | |
| NM_001998.2:c.3471C>T | NP_001989.2:p.Asp1157= | |
| XM_006713026.2:c.3495C>T | XP_006713089.1:p.Asp1165= | |
| NM_001004019.2:c.3612C>T MANE Select | NP_001004019.1:p.Asp1204= | |
| NM_001165035.2:c.3612C>T | NP_001158507.1:p.Asp1204= | |
| NM_001998.3:c.3471C>T | NP_001989.2:p.Asp1157= |