Linked Data
ClinVar Variation Id:
1648332
ClinVar RCV Id:
RCV002160815
dbSNP Id:
rs2143075427
gnomAD v4:
17-42536329-G-A
MyVariant Identifiers:
chr17:g.40688347G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42536329G>A , CM000679.2:g.42536329G>A | GRCh38 |
| NC_000017.10:g.40688347G>A , CM000679.1:g.40688347G>A | GRCh37 |
| NC_000017.9:g.37941873G>A | NCBI36 |
| NG_011552.1:g.5397G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.57G>A MANE Select | ENSP00000225927.1:p.Gly19= | |
| ENST00000225927.6:c.57G>A | ENSP00000225927.1:p.Gly19= | |
| NM_000263.3:c.57G>A | NP_000254.2:p.Gly19= | |
| XM_024450771.1:c.57G>A | XP_024306539.1:p.Gly19= | |
| NM_000263.4:c.57G>A MANE Select | NP_000254.2:p.Gly19= |