Linked Data
ClinVar Variation Id:
7876
ClinVar RCV Id:
RCV000008325
dbSNP Id:
rs121909215
gnomAD v4:
5-136060898-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136060898G>A , CM000667.2:g.136060898G>A | GRCh38 |
| NC_000005.9:g.135396587G>A , CM000667.1:g.135396587G>A | GRCh37 |
| NC_000005.8:g.135424486G>A | NCBI36 |
| NG_012646.1:g.37004G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000442011.7:c.1868G>A MANE Select | ENSP00000416330.2:p.Gly623Asp | |
| ENST00000442011.6:c.1868G>A | ENSP00000416330.2:p.Gly623Asp | |
| ENST00000503087.1:c.94G>A | ||
| ENST00000506699.5:n.2385G>A | ||
| ENST00000507018.5:c.1846G>A | ||
| ENST00000508076.5:c.14G>A | ENSP00000423935.1:p.Gly5Asp | |
| ENST00000513497.1:n.513G>A | ||
| ENST00000514554.5:c.1020G>A | ||
| NM_000358.2:c.1868G>A | NP_000349.1:p.Gly623Asp | |
| NM_000358.3:c.1868G>A MANE Select | NP_000349.1:p.Gly623Asp |