Linked Data
ClinVar Variation Id:
393192
dbSNP Id:
rs1057524830
gnomAD v2:
17-6599211-C-T
gnomAD v4:
17-6695892-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6695892C>T , CM000679.2:g.6695892C>T | GRCh38 |
| NC_000017.10:g.6599211C>T , CM000679.1:g.6599211C>T | GRCh37 |
| NC_000017.9:g.6539935C>T | NCBI36 |
| NG_034220.1:g.22530G>A , LRG_1020:g.22530G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433363.7:c.889G>A MANE Select | ENSP00000406220.2:p.Ala297Thr | |
| ENST00000293800.10:c.838G>A | ENSP00000293800.6:p.Ala280Thr | |
| ENST00000381074.8:c.760G>A | ENSP00000370464.4:p.Ala254Thr | |
| ENST00000433363.6:c.889G>A | ENSP00000406220.2:p.Ala297Thr | |
| ENST00000572094.1:c.*639G>A | ENSP00000461495.1:n.*639G>A | |
| ENST00000573648.5:c.889G>A | ENSP00000459372.1:p.Ala297Thr | |
| ENST00000574824.5:n.2022G>A | ||
| NM_001143838.2:c.889G>A | NP_001137310.1:p.Ala297Thr | |
| NM_001284509.1:c.838G>A | NP_001271438.1:p.Ala280Thr | |
| NM_001284510.1:c.760G>A | NP_001271439.1:p.Ala254Thr | |
| NM_177550.4:c.889G>A , LRG_1020t1:c.889G>A | NP_808218.1:p.Ala297Thr | |
| XM_006721504.2:c.778G>A | XP_006721567.1:p.Ala260Thr | |
| XM_011523795.1:c.889G>A | XP_011522097.1:p.Ala297Thr | |
| XM_011523795.3:c.889G>A | XP_011522097.1:p.Ala297Thr | |
| NM_001143838.3:c.889G>A | NP_001137310.1:p.Ala297Thr | |
| NM_001284509.2:c.838G>A | NP_001271438.1:p.Ala280Thr | |
| NM_001284510.2:c.760G>A | NP_001271439.1:p.Ala254Thr | |
| NM_177550.5:c.889G>A MANE Select | NP_808218.1:p.Ala297Thr |