Linked Data
ClinVar Variation Id:
280534
dbSNP Id:
rs773770609
ExAC:
17:6599103 G / A
gnomAD v2:
17-6599103-G-A
gnomAD v3:
17-6695784-G-A
gnomAD v4:
17-6695784-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6695784G>A , CM000679.2:g.6695784G>A | GRCh38 |
| NC_000017.10:g.6599103G>A , CM000679.1:g.6599103G>A | GRCh37 |
| NC_000017.9:g.6539827G>A | NCBI36 |
| NG_034220.1:g.22638C>T , LRG_1020:g.22638C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000433363.7:c.997C>T MANE Select | ENSP00000406220.2:p.Arg333Ter | |
| ENST00000293800.10:c.946C>T | ENSP00000293800.6:p.Arg316Ter | |
| ENST00000381074.8:c.868C>T | ENSP00000370464.4:p.Arg290Ter | |
| ENST00000433363.6:c.997C>T | ENSP00000406220.2:p.Arg333Ter | |
| ENST00000572727.1:n.106C>T | ||
| ENST00000573648.5:c.997C>T | ENSP00000459372.1:p.Arg333Ter | |
| ENST00000574824.5:n.2130C>T | ||
| NM_001143838.2:c.997C>T | NP_001137310.1:p.Arg333Ter | |
| NM_001284509.1:c.946C>T | NP_001271438.1:p.Arg316Ter | |
| NM_001284510.1:c.868C>T | NP_001271439.1:p.Arg290Ter | |
| NM_177550.4:c.997C>T , LRG_1020t1:c.997C>T | NP_808218.1:p.Arg333Ter | |
| XM_006721504.2:c.886C>T | XP_006721567.1:p.Arg296Ter | |
| XM_011523795.1:c.997C>T | XP_011522097.1:p.Arg333Ter | |
| XM_011523795.3:c.997C>T | XP_011522097.1:p.Arg333Ter | |
| NM_001143838.3:c.997C>T | NP_001137310.1:p.Arg333Ter | |
| NM_001284509.2:c.946C>T | NP_001271438.1:p.Arg316Ter | |
| NM_001284510.2:c.868C>T | NP_001271439.1:p.Arg290Ter | |
| NM_177550.5:c.997C>T MANE Select | NP_808218.1:p.Arg333Ter |