Linked Data
ClinVar Variation Id:
2457165
ClinVar RCV Id:
RCV004254308
dbSNP Id:
rs377635293
ExAC:
11:6340425 C / T
gnomAD v2:
11-6340425-C-T
gnomAD v3:
11-6319195-C-T
gnomAD v4:
11-6319195-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6319195C>T , CM000673.2:g.6319195C>T | GRCh38 |
| NC_000011.9:g.6340425C>T , CM000673.1:g.6340425C>T | GRCh37 |
| NC_000011.8:g.6297001C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303927.4:c.754G>A MANE Select | ENSP00000307292.3:p.Glu252Lys | |
| ENST00000303927.3:c.754G>A | ENSP00000307292.3:p.Glu252Lys | |
| ENST00000524852.1:n.540G>A | ||
| ENST00000530979.1:c.850G>A | ENSP00000432047.1:p.Glu284Lys | |
| ENST00000532354.1:n.776G>A | ||
| NM_145040.2:c.754G>A | NP_659477.2:p.Glu252Lys | |
| XR_930997.1:n.720+975C>T | ||
| XR_242848.4:n.55C>T | ||
| NM_145040.3:c.754G>A MANE Select | NP_659477.2:p.Glu252Lys |