Linked Data
ClinVar Variation Id:
53120
ClinVar RCV Id:
RCV000057783
RCV000455757
RCV001102798
RCV001102799
RCV001102800
RCV001102801
RCV001841657
RCV001852979
RCV002504941
dbSNP Id:
rs199473464
ExAC:
11:2594163 G / A
gnomAD v2:
11-2594163-G-A
gnomAD v3:
11-2572933-G-A
gnomAD v4:
11-2572933-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2572933G>A , CM000673.2:g.2572933G>A | GRCh38 |
| NC_000011.9:g.2594163G>A , CM000673.1:g.2594163G>A | GRCh37 |
| NC_000011.8:g.2550739G>A | NCBI36 |
| NG_008935.1:g.132943G>A , LRG_287:g.132943G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000496887.7:c.607G>A | ENSP00000434560.2:p.Glu203Lys | |
| ENST00000646564.2:c.478-10502G>A | ENSP00000495806.2:n.478-10502G>A | |
| ENST00000155840.12:c.868G>A MANE Select | ENSP00000155840.2:p.Glu290Lys | |
| ENST00000335475.6:c.487G>A | ENSP00000334497.5:p.Glu163Lys | |
| ENST00000646564.1:c.124-10502G>A | ENSP00000495806.1:n.124-10502G>A | |
| ENST00000155840.9:c.868G>A | ENSP00000155840.2:p.Glu290Lys | |
| ENST00000335475.5:c.487G>A | ENSP00000334497.5:p.Glu163Lys | |
| NM_000218.2:c.868G>A , LRG_287t1:c.868G>A | NP_000209.2:p.Glu290Lys | |
| NM_181798.1:c.487G>A , LRG_287t2:c.487G>A | NP_861463.1:p.Glu163Lys | |
| NM_000218.3:c.868G>A MANE Select | NP_000209.2:p.Glu290Lys |