Linked Data
ClinVar Variation Id:
215349
dbSNP Id:
rs137995316
ExAC:
5:132202583 G / A
gnomAD v2:
5-132202583-G-A
gnomAD v3:
5-132866891-G-A
gnomAD v4:
5-132866891-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132866891G>A , CM000667.2:g.132866891G>A | GRCh38 |
| NC_000005.9:g.132202583G>A , CM000667.1:g.132202583G>A | GRCh37 |
| NC_000005.8:g.132230482G>A | NCBI36 |
| NG_012221.1:g.5265G>A | |
| NG_047051.1:g.4994C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378670.8:c.10G>A MANE Select | ENSP00000367939.3:p.Glu4Lys | |
| ENST00000378665.1:c.10G>A | ENSP00000367934.1:p.Glu4Lys | |
| ENST00000378667.1:c.10G>A | ENSP00000367936.1:p.Glu4Lys | |
| ENST00000378670.7:c.10G>A | ENSP00000367939.3:p.Glu4Lys | |
| ENST00000480372.1:n.58G>A | ||
| ENST00000496429.1:n.46+204G>A | ||
| ENST00000498309.1:n.78G>A | ||
| NM_014402.4:c.10G>A | NP_055217.2:p.Glu4Lys | |
| NM_014402.5:c.10G>A MANE Select | NP_055217.2:p.Glu4Lys |