Linked Data
ClinVar Variation Id:
1085
ClinVar RCV Id:
RCV000001143
dbSNP Id:
rs118203965
PubMed:
PMID:17701905
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.33850969A>T , CM000682.2:g.33850969A>T | GRCh38 |
| NC_000020.10:g.32438775A>T , CM000682.1:g.32438775A>T | GRCh37 |
| NC_000020.9:g.31902436A>T | NCBI36 |
| NG_015820.1:g.44666A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000217402.3:c.386A>T MANE Select | ENSP00000217402.2:p.Asp129Val | |
| ENST00000217402.2:c.386A>T | ENSP00000217402.2:p.Asp129Val | |
| NM_176812.4:c.386A>T | NP_789782.1:p.Asp129Val | |
| NM_176812.5:c.386A>T MANE Select | NP_789782.1:p.Asp129Val |