Linked Data
ClinVar Variation Id:
135413
ClinVar RCV Id:
RCV000122268
RCV000514559
RCV000990810
RCV001081710
RCV002280873
RCV003315781
RCV003975089
dbSNP Id:
rs146220228
ExAC:
X:48544153 G / A
gnomAD v2:
X-48544153-G-A
gnomAD v3:
X-48685764-G-A
gnomAD v4:
X-48685764-G-A
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48685764G>A , CM000685.2:g.48685764G>A | GRCh38 |
| NC_000023.10:g.48544153G>A , CM000685.1:g.48544153G>A | GRCh37 |
| NC_000023.9:g.48429097G>A | NCBI36 |
| NG_007877.1:g.6968G>A , LRG_125:g.6968G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000483750.6:n.424G>A | ||
| ENST00000490627.2:n.3G>A | ||
| ENST00000698625.1:c.391G>A | ENSP00000513844.1:p.Glu131Lys | |
| ENST00000698626.1:c.391G>A | ENSP00000513845.1:p.Glu131Lys | |
| ENST00000698635.1:c.391G>A | ENSP00000513850.1:p.Glu131Lys | |
| ENST00000376701.5:c.391G>A MANE Select | ENSP00000365891.4:p.Glu131Lys | |
| ENST00000376701.4:c.391G>A | ENSP00000365891.4:p.Glu131Lys | |
| ENST00000450772.5:c.391G>A | ENSP00000410537.1:p.Glu131Lys | |
| ENST00000465982.5:n.426G>A | ||
| ENST00000483750.5:n.417G>A | ||
| NM_000377.2:c.391G>A , LRG_125t1:c.391G>A | NP_000368.1:p.Glu131Lys | |
| XM_011543977.1:c.391G>A | XP_011542279.1:p.Glu131Lys | |
| XM_011543977.2:c.391G>A | XP_011542279.1:p.Glu131Lys | |
| XM_017029786.1:c.391G>A | XP_016885275.1:p.Glu131Lys | |
| NM_000377.3:c.391G>A MANE Select | NP_000368.1:p.Glu131Lys |