Linked Data
ClinVar Variation Id:
498225
dbSNP Id:
rs1479652323
gnomAD v2:
8-133187845-G-A
gnomAD v4:
8-132175598-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.132175598G>A , CM000670.2:g.132175598G>A | GRCh38 |
| NC_000008.10:g.133187845G>A , CM000670.1:g.133187845G>A | GRCh37 |
| NC_000008.9:g.133257027G>A | NCBI36 |
| NG_008854.2:g.310160C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388996.10:c.788C>T MANE Select | ENSP00000373648.3:p.Thr263Met | |
| ENST00000521134.6:c.428C>T | ENSP00000429799.1:p.Thr143Met | |
| ENST00000638588.1:c.461C>T | ENSP00000491940.1:p.Thr154Met | |
| ENST00000639358.1:c.438C>T | ||
| ENST00000639496.1:c.461C>T | ENSP00000491165.1:p.Thr154Met | |
| ENST00000388996.8:c.788C>T | ENSP00000373648.3:p.Thr263Met | |
| ENST00000519445.5:c.788C>T | ENSP00000428790.1:p.Thr263Met | |
| ENST00000519589.1:n.566C>T | ||
| ENST00000521134.5:c.428C>T | ENSP00000429799.1:p.Thr143Met | |
| ENST00000621976.1:c.425C>T | ENSP00000482510.1:p.Thr142Met | |
| NM_001204824.1:c.428C>T | NP_001191753.1:p.Thr143Met | |
| NM_004519.3:c.788C>T | NP_004510.1:p.Thr263Met | |
| XM_005250914.2:c.-369C>T | XP_005250971.1:n.-369C>T | |
| XM_006716555.2:c.80C>T | XP_006716618.1:p.Thr27Met | |
| XM_011517026.1:c.428C>T | XP_011515328.1:p.Thr143Met | |
| XM_005250914.3:c.-369C>T | XP_005250971.1:n.-369C>T | |
| XM_006716555.3:c.80C>T | XP_006716618.1:p.Thr27Met | |
| XM_011517026.2:c.428C>T | XP_011515328.1:p.Thr143Met | |
| XM_017013400.1:c.566C>T | XP_016868889.1:p.Thr189Met | |
| NM_004519.4:c.788C>T MANE Select | NP_004510.1:p.Thr263Met | |
| NM_001204824.2:c.428C>T | NP_001191753.1:p.Thr143Met |