Linked Data
ClinVar Variation Id:
10163
ClinVar RCV Id:
RCV000010876
dbSNP Id:
rs137852380
PubMed:
PMID:7728145
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154997095C>T , CM000685.2:g.154997095C>T | GRCh38 |
| NC_000023.10:g.154225370C>T , CM000685.1:g.154225370C>T | GRCh37 |
| NC_000023.9:g.153878564C>T | NCBI36 |
| NG_011403.1:g.30629G>A | |
| NG_011403.2:g.30629G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.266G>A MANE Select | ENSP00000353393.4:p.Gly89Asp | |
| ENST00000647125.1:c.*52G>A | ENSP00000496062.1:n.*52G>A | |
| ENST00000360256.8:c.266G>A | ENSP00000353393.4:p.Gly89Asp | |
| ENST00000423959.5:c.161G>A | ENSP00000409446.1:p.Gly54Asp | |
| ENST00000453950.1:c.248G>A | ENSP00000389153.1:p.Gly83Asp | |
| NM_000132.3:c.266G>A | NP_000123.1:p.Gly89Asp | |
| XM_011531126.1:c.161G>A | XP_011529428.1:p.Gly54Asp | |
| NM_000132.4:c.266G>A MANE Select | NP_000123.1:p.Gly89Asp |