Linked Data
ClinVar Variation Id:
376198
ClinVar RCV Id:
RCV000422017
dbSNP Id:
rs1057519822
PubMed:
PMID:19915144
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66481818T>A , CM000677.2:g.66481818T>A | GRCh38 |
| NC_000015.9:g.66774156T>A , CM000677.1:g.66774156T>A | GRCh37 |
| NC_000015.8:g.64561210T>A | NCBI36 |
| NG_008305.1:g.99946T>A , LRG_725:g.99946T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684779.1:c.566T>A | ENSP00000508681.1:p.Val189Asp | |
| ENST00000685172.1:c.632T>A | ENSP00000509604.1:p.Val211Asp | |
| ENST00000685763.1:c.485T>A | ENSP00000509016.1:p.Val162Asp | |
| ENST00000686347.1:c.569-5410T>A | ENSP00000509027.1:n.569-5410T>A | |
| ENST00000687191.1:n.990T>A | ||
| ENST00000689951.1:c.683T>A | ENSP00000509308.1:p.Val228Asp | |
| ENST00000691077.1:c.632T>A | ENSP00000509843.1:p.Val211Asp | |
| ENST00000691576.1:c.569-3176T>A | ENSP00000510066.1:n.569-3176T>A | |
| ENST00000691937.1:c.632T>A | ENSP00000508768.1:p.Val211Asp | |
| ENST00000692487.1:c.632T>A | ENSP00000509534.1:p.Val211Asp | |
| ENST00000692683.1:c.566T>A | ENSP00000508437.1:p.Val189Asp | |
| ENST00000693150.1:c.488T>A | ENSP00000510309.1:p.Val163Asp | |
| ENST00000307102.10:c.632T>A MANE Select | ENSP00000302486.5:p.Val211Asp | |
| ENST00000307102.9:c.632T>A | ENSP00000302486.4:p.Val211Asp | |
| ENST00000566326.1:c.104T>A | ENSP00000456438.1:p.Val35Asp | |
| NM_002755.3:c.632T>A , LRG_725t1:c.632T>A | NP_002746.1:p.Val211Asp | |
| XM_011521783.1:c.566T>A | XP_011520085.1:p.Val189Asp | |
| XM_011521783.3:c.566T>A | XP_011520085.1:p.Val189Asp | |
| XM_017022411.2:c.554T>A | XP_016877900.1:p.Val185Asp | |
| XM_017022412.1:c.488T>A | XP_016877901.1:p.Val163Asp | |
| XM_017022413.1:c.104T>A | XP_016877902.1:p.Val35Asp | |
| NM_002755.4:c.632T>A MANE Select | NP_002746.1:p.Val211Asp |