Linked Data
ClinVar Variation Id:
10165
ClinVar RCV Id:
RCV000010878
dbSNP Id:
rs137852382
PubMed:
PMID:7728145
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154997065A>T , CM000685.2:g.154997065A>T | GRCh38 |
| NC_000023.10:g.154225340A>T , CM000685.1:g.154225340A>T | GRCh37 |
| NC_000023.9:g.153878534A>T | NCBI36 |
| NG_011403.1:g.30659T>A | |
| NG_011403.2:g.30659T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.296T>A MANE Select | ENSP00000353393.4:p.Val99Asp | |
| ENST00000647125.1:c.*82T>A | ENSP00000496062.1:n.*82T>A | |
| ENST00000360256.8:c.296T>A | ENSP00000353393.4:p.Val99Asp | |
| ENST00000423959.5:c.191T>A | ENSP00000409446.1:p.Val64Asp | |
| ENST00000453950.1:c.278T>A | ENSP00000389153.1:p.Val93Asp | |
| NM_000132.3:c.296T>A | NP_000123.1:p.Val99Asp | |
| XM_011531126.1:c.191T>A | XP_011529428.1:p.Val64Asp | |
| NM_000132.4:c.296T>A MANE Select | NP_000123.1:p.Val99Asp |