Linked Data
ClinVar Variation Id:
161346
dbSNP Id:
rs41267007
ExAC:
3:93619677 C / T
gnomAD v2:
3-93619677-C-T
gnomAD v3:
3-93900833-C-T
gnomAD v4:
3-93900833-C-T
PubMed:
PMID:25637381
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.93900833C>T , CM000665.2:g.93900833C>T | GRCh38 |
| NC_000003.11:g.93619677C>T , CM000665.1:g.93619677C>T | GRCh37 |
| NC_000003.10:g.95102367C>T | NCBI36 |
| NG_009813.1:g.78258G>A , LRG_572:g.78258G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348974.5:c.698G>A | ENSP00000330021.7:p.Arg233Lys | |
| ENST00000394236.9:c.698G>A MANE Select | ENSP00000377783.3:p.Arg233Lys | |
| ENST00000407433.6:c.653G>A | ENSP00000385794.2:p.Arg218Lys | |
| ENST00000647936.1:c.698G>A | ENSP00000496822.1:p.Arg233Lys | |
| ENST00000648381.1:n.866G>A | ||
| ENST00000648853.1:c.656G>A | ENSP00000497262.1:p.Arg219Lys | |
| ENST00000649103.1:c.797G>A | ENSP00000497962.1:n.797G>A | |
| ENST00000650591.1:c.794G>A | ENSP00000497376.1:p.Arg265Lys | |
| ENST00000394236.7:c.698G>A | ENSP00000377783.3:p.Arg233Lys | |
| ENST00000407433.5:c.305G>A | ENSP00000385794.1:p.Arg102Lys | |
| NM_000313.3:c.698G>A , LRG_572t1:c.698G>A | NP_000304.2:p.Arg233Lys | |
| NM_001314077.1:c.794G>A , LRG_572t2:c.794G>A | NP_001301006.1:p.Arg265Lys | |
| NM_000313.4:c.698G>A MANE Select | NP_000304.2:p.Arg233Lys | |
| NM_001314077.2:c.794G>A | NP_001301006.1:p.Arg265Lys |