COSMIC:
COSM1332500 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.33163326 (SAS)
Genomes Max Group AF
0.3615894 (SAS)
Exomes Max Group AF
0.32944035 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.109690525C>T , CM000663.2:g.109690525C>T | GRCh38 |
| NC_000001.10:g.110233147C>T , CM000663.1:g.110233147C>T | GRCh37 |
| NC_000001.9:g.110034670C>T | NCBI36 |
| NG_009246.1:g.7730C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309851.10:c.528C>T (GSTM1) MANE Select | ENSP00000311469.5:p.Asp176= | |
| ENST00000309851.9:c.528C>T (GSTM1) | ENSP00000311469.5:p.Asp176= | |
| ENST00000349334.7:c.456+159C>T (GSTM1) | ENSP00000234981.4:n.456+159C>T | |
| ENST00000369819.2:c.360+1200C>T (GSTM1) | ENSP00000358834.2:n.360+1200C>T | |
| ENST00000369823.6:c.585C>T (GSTM1) | ENSP00000358838.2:p.Asp195= | |
| ENST00000369831.6:c.568-17956C>T (GSTM2) | ENSP00000358846.2:n.568-17956C>T | |
| ENST00000460717.7:c.*17+8691C>T (GSTM2) | ENSP00000435910.2:n.*17+8691C>T | |
| ENST00000483399.6:c.*20+1200C>T (GSTM1) | ENSP00000455929.1:n.*20+1200C>T | |
| ENST00000490021.2:n.344+1200C>T (GSTM1) | ||
| NM_000561.3:c.528C>T (GSTM1) | NP_000552.2:p.Asp176= | |
| NM_146421.2:c.456+159C>T (GSTM1) | NP_666533.1:n.456+159C>T | |
| XM_005270782.3:c.426C>T (GSTM1) | XP_005270839.1:p.Asp142= | |
| XM_005270783.3:c.216C>T (GSTM1) | XP_005270840.1:p.Asp72= | |
| XM_005270782.5:c.426C>T (GSTM1) | XP_005270839.1:p.Asp142= | |
| NM_000561.4:c.528C>T (GSTM1) MANE Select | NP_000552.2:p.Asp176= | |
| NM_146421.3:c.456+159C>T (GSTM1) | NP_666533.1:n.456+159C>T |