Linked Data
ClinVar Variation Id:
218171
dbSNP Id:
rs150203483
ExAC:
17:6599078 C / T
gnomAD v2:
17-6599078-C-T
gnomAD v3:
17-6695759-C-T
gnomAD v4:
17-6695759-C-T
PubMed:
PMID:26384929
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6695759C>T , CM000679.2:g.6695759C>T | GRCh38 |
| NC_000017.10:g.6599078C>T , CM000679.1:g.6599078C>T | GRCh37 |
| NC_000017.9:g.6539802C>T | NCBI36 |
| NG_034220.1:g.22663G>A , LRG_1020:g.22663G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000433363.7:c.1022G>A MANE Select | ENSP00000406220.2:p.Trp341Ter | |
| ENST00000293800.10:c.971G>A | ENSP00000293800.6:p.Trp324Ter | |
| ENST00000381074.8:c.893G>A | ENSP00000370464.4:p.Trp298Ter | |
| ENST00000433363.6:c.1022G>A | ENSP00000406220.2:p.Trp341Ter | |
| ENST00000572727.1:n.131G>A | ||
| ENST00000573648.5:c.1022G>A | ENSP00000459372.1:p.Trp341Ter | |
| ENST00000574824.5:n.2155G>A | ||
| NM_001143838.2:c.1022G>A | NP_001137310.1:p.Trp341Ter | |
| NM_001284509.1:c.971G>A | NP_001271438.1:p.Trp324Ter | |
| NM_001284510.1:c.893G>A | NP_001271439.1:p.Trp298Ter | |
| NM_177550.4:c.1022G>A , LRG_1020t1:c.1022G>A | NP_808218.1:p.Trp341Ter | |
| XM_006721504.2:c.911G>A | XP_006721567.1:p.Trp304Ter | |
| XM_011523795.1:c.1022G>A | XP_011522097.1:p.Trp341Ter | |
| XM_011523795.3:c.1022G>A | XP_011522097.1:p.Trp341Ter | |
| NM_001143838.3:c.1022G>A | NP_001137310.1:p.Trp341Ter | |
| NM_001284509.2:c.971G>A | NP_001271438.1:p.Trp324Ter | |
| NM_001284510.2:c.893G>A | NP_001271439.1:p.Trp298Ter | |
| NM_177550.5:c.1022G>A MANE Select | NP_808218.1:p.Trp341Ter |