COSMIC:
COSM150013 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.60611206 (AFR)
Genomes Max Group AF
0.60276185 (AFR)
Exomes Max Group AF
0.60594823 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.170034543C>T , CM000667.2:g.170034543C>T | GRCh38 |
| NC_000005.9:g.169461547C>T , CM000667.1:g.169461547C>T | GRCh37 |
| NC_000005.8:g.169394125C>T | NCBI36 |
| NG_051800.1:g.402297C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000520450.6:n.165C>T | ||
| ENST00000522138.2:c.*3122C>T | ENSP00000512484.1:n.*3122C>T | |
| ENST00000520908.7:c.3612C>T MANE Select | ENSP00000429283.3:p.Thr1204= | |
| ENST00000523351.6:n.2252C>T | ||
| ENST00000256935.12:c.3612C>T | ENSP00000256935.8:p.Thr1204= | |
| ENST00000520908.5:c.2088C>T | ENSP00000429283.1:p.Thr696= | |
| ENST00000523351.5:n.1377C>T | ||
| ENST00000524185.5:c.*567C>T | ENSP00000428850.1:n.*567C>T | |
| NM_004946.2:c.3612C>T | NP_004937.1:p.Thr1204= | |
| NM_004946.3:c.3612C>T MANE Select | NP_004937.1:p.Thr1204= | |
| NR_156756.1:n.3715C>T |