Linked Data
ClinVar Variation Id:
1816
ClinVar RCV Id:
RCV000001889
dbSNP Id:
rs121434318
PubMed:
PMID:19443465
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.38299471T>A , CM000677.2:g.38299471T>A | GRCh38 |
| NC_000015.9:g.38591672T>A , CM000677.1:g.38591672T>A | GRCh37 |
| NC_000015.8:g.36378964T>A | NCBI36 |
| NG_008980.1:g.51621T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299084.9:c.131T>A MANE Select | ENSP00000299084.4:p.Val44Asp | |
| ENST00000299084.8:c.131T>A | ENSP00000299084.4:p.Val44Asp | |
| ENST00000561205.1:n.469T>A | ||
| ENST00000561317.1:c.68T>A | ENSP00000453680.1:p.Val23Asp | |
| NM_152594.2:c.131T>A | NP_689807.1:p.Val44Asp | |
| XM_005254202.2:c.167T>A | XP_005254259.1:p.Val56Asp | |
| XM_005254203.3:c.-15-22770T>A | XP_005254260.1:n.-15-22770T>A | |
| XM_011521288.1:c.68T>A | XP_011519590.1:p.Val23Asp | |
| XM_011521289.1:c.68T>A | XP_011519591.1:p.Val23Asp | |
| XM_011521290.1:c.68T>A | XP_011519592.1:p.Val23Asp | |
| XM_005254202.3:c.167T>A | XP_005254259.1:p.Val56Asp | |
| XM_011521289.3:c.68T>A | XP_011519591.1:p.Val23Asp | |
| NM_152594.3:c.131T>A MANE Select | NP_689807.1:p.Val44Asp |