Linked Data
ClinVar Variation Id:
235512
dbSNP Id:
rs375628463
ExAC:
6:24515471 G / A
gnomAD v2:
6-24515471-G-A
gnomAD v3:
6-24515243-G-A
gnomAD v4:
6-24515243-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24515243G>A , CM000668.2:g.24515243G>A | GRCh38 |
| NC_000006.11:g.24515471G>A , CM000668.1:g.24515471G>A | GRCh37 |
| NC_000006.10:g.24623450G>A | NCBI36 |
| NG_008161.1:g.25275G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357578.8:c.803G>A MANE Select | ENSP00000350191.3:p.Gly268Glu | |
| ENST00000672352.1:c.490-5158G>A | ENSP00000500876.1:n.490-5158G>A | |
| ENST00000672557.1:c.721G>A | ||
| ENST00000672619.1:n.163G>A | ||
| ENST00000672652.1:c.766G>A | ||
| ENST00000675422.1:n.1563G>A | ||
| ENST00000348925.2:c.842G>A | ENSP00000314649.3:p.Gly281Glu | |
| ENST00000357578.7:c.803G>A | ENSP00000350191.3:p.Gly268Glu | |
| ENST00000491546.5:c.719G>A | ENSP00000417687.1:p.Gly240Glu | |
| NM_001080.3:c.803G>A MANE Select | NP_001071.1:p.Gly268Glu | |
| NM_170740.1:c.842G>A | NP_733936.1:p.Gly281Glu | |
| NM_001368954.1:c.727-5158G>A | NP_001355883.1:n.727-5158G>A |