Linked Data
ClinVar Variation Id:
156450
dbSNP Id:
rs587777794
gnomAD v3:
3-179204588-G-A
gnomAD v4:
3-179204588-G-A
PubMed:
PMID:23246288
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.179204588G>A , CM000665.2:g.179204588G>A | GRCh38 |
| NC_000003.11:g.178922376G>A , CM000665.1:g.178922376G>A | GRCh37 |
| NC_000003.10:g.180405070G>A | NCBI36 |
| NG_012113.2:g.61066G>A , LRG_310:g.61066G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263967.4:c.1145G>A MANE Select | ENSP00000263967.3:p.Arg382Lys | |
| ENST00000643187.1:c.1145G>A | ENSP00000493507.1:p.Arg382Lys | |
| ENST00000674534.1:n.899G>A | ||
| ENST00000675467.1:n.3952G>A | ||
| ENST00000675786.1:c.1145G>A | ENSP00000502323.1:p.Arg382Lys | |
| ENST00000263967.3:c.1145G>A | ENSP00000263967.3:p.Arg382Lys | |
| NM_006218.2:c.1145G>A , LRG_310t1:c.1145G>A | NP_006209.2:p.Arg382Lys | |
| XM_006713658.2:c.1145G>A | XP_006713721.1:p.Arg382Lys | |
| XM_011512894.1:c.1145G>A | XP_011511196.1:p.Arg382Lys | |
| NM_006218.3:c.1145G>A | NP_006209.2:p.Arg382Lys | |
| XM_006713658.4:c.1145G>A | XP_006713721.1:p.Arg382Lys | |
| XM_011512894.2:c.1145G>A | XP_011511196.1:p.Arg382Lys | |
| NM_006218.4:c.1145G>A MANE Select | NP_006209.2:p.Arg382Lys |