Linked Data
ClinVar Variation Id:
829542
ClinVar RCV Id:
RCV001029465
dbSNP Id:
rs1584857558
MyVariant Identifiers:
chr7:g.87165774C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.87536458C>T , CM000669.2:g.87536458C>T | GRCh38 |
| NC_000007.13:g.87165774C>T , CM000669.1:g.87165774C>T | GRCh37 |
| NC_000007.12:g.87003710C>T | NCBI36 |
| NG_011513.1:g.181791G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265724.8:c.2481G>A | ENSP00000265724.3:p.Gly827= | |
| ENST00000622132.5:c.2481G>A MANE Select | ENSP00000478255.1:p.Gly827= | |
| ENST00000265724.7:c.2481G>A | ENSP00000265724.3:p.Gly827= | |
| ENST00000496821.5:n.109G>A | ||
| ENST00000543898.5:c.2289G>A | ENSP00000444095.1:p.Gly763= | |
| ENST00000622132.4:c.2481G>A | ENSP00000478255.1:p.Gly827= | |
| NM_000927.4:c.2481G>A | NP_000918.2:p.Gly827= | |
| NM_001348944.1:c.2481G>A | NP_001335873.1:p.Gly827= | |
| NM_001348945.1:c.2691G>A | NP_001335874.1:p.Gly897= | |
| NM_001348946.1:c.2481G>A | NP_001335875.1:p.Gly827= | |
| NM_001348946.2:c.2481G>A MANE Select | NP_001335875.1:p.Gly827= | |
| NM_000927.5:c.2481G>A | NP_000918.2:p.Gly827= | |
| NM_001348944.2:c.2481G>A | NP_001335873.1:p.Gly827= | |
| NM_001348945.2:c.2691G>A | NP_001335874.1:p.Gly897= |