Linked Data
ClinVar Variation Id:
2515079
ClinVar RCV Id:
RCV004293681
dbSNP Id:
rs969716985
gnomAD v2:
1-110279791-C-G
gnomAD v3:
1-109737169-C-G
gnomAD v4:
1-109737169-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.109737169C>G , CM000663.2:g.109737169C>G | GRCh38 |
| NC_000001.10:g.110279791C>G , CM000663.1:g.110279791C>G | GRCh37 |
| NC_000001.9:g.110081314C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361066.7:c.580G>C (GSTM3) MANE Select | ENSP00000354357.2:p.Ala194Pro | |
| ENST00000256594.7:c.580G>C (GSTM3) | ENSP00000256594.3:p.Ala194Pro | |
| ENST00000361066.6:c.580G>C (GSTM3) | ENSP00000354357.2:p.Ala194Pro | |
| ENST00000429410.2:n.82+24821C>G (GSTM5) | ||
| ENST00000476321.5:n.548G>C (GSTM3) | ||
| ENST00000486823.5:n.544G>C (GSTM3) | ||
| ENST00000488824.1:n.925G>C (GSTM3) | ||
| NM_000849.4:c.580G>C (GSTM3) | NP_000840.2:p.Ala194Pro | |
| NR_024537.1:n.814G>C (GSTM3) | ||
| XM_011541296.1:c.799G>C (GSTM3) | XP_011539598.1:p.Ala267Pro | |
| NM_000849.5:c.580G>C (GSTM3) MANE Select | NP_000840.2:p.Ala194Pro | |
| NR_024537.2:n.814G>C (GSTM3) |