Linked Data
dbSNP Id:
rs1162788954
gnomAD v2:
17-6607347-C-T
gnomAD v3:
17-6704028-C-T
gnomAD v4:
17-6704028-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6704028C>T , CM000679.2:g.6704028C>T | GRCh38 |
| NC_000017.10:g.6607347C>T , CM000679.1:g.6607347C>T | GRCh37 |
| NC_000017.9:g.6548071C>T | NCBI36 |
| NG_034220.1:g.14394G>A , LRG_1020:g.14394G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433363.7:c.397G>A MANE Select | ENSP00000406220.2:p.Ala133Thr | |
| ENST00000293800.10:c.369-23G>A | ENSP00000293800.6:n.369-23G>A | |
| ENST00000381074.8:c.268G>A | ENSP00000370464.4:p.Ala90Thr | |
| ENST00000433363.6:c.397G>A | ENSP00000406220.2:p.Ala133Thr | |
| ENST00000572094.1:c.*147G>A | ENSP00000461495.1:n.*147G>A | |
| ENST00000572352.5:c.286G>A | ENSP00000461622.1:p.Ala96Thr | |
| ENST00000573648.5:c.397G>A | ENSP00000459372.1:p.Ala133Thr | |
| ENST00000574824.5:n.1530G>A | ||
| ENST00000576323.1:n.427G>A | ||
| NM_001143838.2:c.397G>A | NP_001137310.1:p.Ala133Thr | |
| NM_001284509.1:c.369-23G>A | NP_001271438.1:n.369-23G>A | |
| NM_001284510.1:c.268G>A | NP_001271439.1:p.Ala90Thr | |
| NM_177550.4:c.397G>A , LRG_1020t1:c.397G>A | NP_808218.1:p.Ala133Thr | |
| XM_006721504.2:c.286G>A | XP_006721567.1:p.Ala96Thr | |
| XM_011523795.1:c.397G>A | XP_011522097.1:p.Ala133Thr | |
| XM_011523795.3:c.397G>A | XP_011522097.1:p.Ala133Thr | |
| NM_001143838.3:c.397G>A | NP_001137310.1:p.Ala133Thr | |
| NM_001284509.2:c.369-23G>A | NP_001271438.1:n.369-23G>A | |
| NM_001284510.2:c.268G>A | NP_001271439.1:p.Ala90Thr | |
| NM_177550.5:c.397G>A MANE Select | NP_808218.1:p.Ala133Thr |