Linked Data
ClinVar Variation Id:
376476
ClinVar RCV Id:
RCV000424090
RCV000423869
RCV000419986
RCV000429813
RCV000431306
RCV000440466
RCV000437047
RCV000484330
RCV000441124
RCV000624735
RCV003233633
RCV003152707
RCV001836817
RCV001851018
dbSNP Id:
rs867262025
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.179221146G>A , CM000665.2:g.179221146G>A | GRCh38 |
| NC_000003.11:g.178938934G>A , CM000665.1:g.178938934G>A | GRCh37 |
| NC_000003.10:g.180421628G>A | NCBI36 |
| NG_012113.2:g.77624G>A , LRG_310:g.77624G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263967.4:c.2176G>A MANE Select | ENSP00000263967.3:p.Glu726Lys | |
| ENST00000462255.2:n.638G>A | ||
| ENST00000643187.1:c.2176G>A | ENSP00000493507.1:p.Glu726Lys | |
| ENST00000674534.1:n.3084G>A | ||
| ENST00000674622.1:c.597G>A | ENSP00000502417.1:n.597G>A | |
| ENST00000675467.1:n.4983G>A | ||
| ENST00000675786.1:c.*743G>A | ENSP00000502323.1:n.*743G>A | |
| ENST00000263967.3:c.2176G>A | ENSP00000263967.3:p.Glu726Lys | |
| ENST00000462255.1:n.450G>A | ||
| NM_006218.2:c.2176G>A , LRG_310t1:c.2176G>A | NP_006209.2:p.Glu726Lys | |
| XM_006713658.2:c.2176G>A | XP_006713721.1:p.Glu726Lys | |
| XM_011512894.1:c.2176G>A | XP_011511196.1:p.Glu726Lys | |
| NM_006218.3:c.2176G>A | NP_006209.2:p.Glu726Lys | |
| XM_006713658.4:c.2176G>A | XP_006713721.1:p.Glu726Lys | |
| XM_011512894.2:c.2176G>A | XP_011511196.1:p.Glu726Lys | |
| NM_006218.4:c.2176G>A MANE Select | NP_006209.2:p.Glu726Lys |