Linked Data
ClinVar Variation Id:
64645
ClinVar RCV Id:
RCV000054815
dbSNP Id:
rs397514755
PubMed:
PMID:23522482
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30186894G>A , CM000678.2:g.30186894G>A | GRCh38 |
| NC_000016.9:g.30198215G>A , CM000678.1:g.30198215G>A | GRCh37 |
| NC_000016.8:g.30105716G>A | NCBI36 |
| NG_023415.1:g.8290G>A , LRG_195:g.8290G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696217.1:n.481G>A | ||
| ENST00000219150.10:c.400G>A MANE Select | ENSP00000219150.6:p.Val134Met | |
| ENST00000219150.9:c.400G>A | ENSP00000219150.5:p.Val134Met | |
| ENST00000561815.5:c.508G>A | ENSP00000456756.1:p.Val170Met | |
| ENST00000563778.5:c.400G>A | ENSP00000456266.1:p.Val134Met | |
| ENST00000564768.1:n.213G>A | ||
| ENST00000565497.5:c.400G>A | ENSP00000456457.1:p.Val134Met | |
| ENST00000567034.5:n.868G>A | ||
| ENST00000568763.1:n.1712G>A | ||
| ENST00000568982.5:n.518G>A | ||
| ENST00000569203.5:c.400G>A | ENSP00000454752.1:p.Val134Met | |
| ENST00000569469.1:n.432-145G>A | ||
| ENST00000569970.1:c.400G>A | ENSP00000457509.1:p.Val134Met | |
| ENST00000570045.5:c.400G>A | ENSP00000455552.1:p.Val134Met | |
| ENST00000570244.5:c.277G>A | ENSP00000457332.1:p.Val93Met | |
| NM_001193333.2:c.400G>A | NP_001180262.1:p.Val134Met | |
| NM_007074.3:c.400G>A | NP_009005.1:p.Val134Met | |
| XM_011545714.1:c.400G>A | XP_011544016.1:p.Val134Met | |
| XM_011545714.2:c.400G>A | XP_011544016.1:p.Val134Met | |
| XM_017022885.2:c.400G>A | XP_016878374.1:p.Val134Met | |
| XM_017022886.1:c.400G>A | XP_016878375.1:p.Val134Met | |
| NM_007074.4:c.400G>A MANE Select | NP_009005.1:p.Val134Met | |
| NM_001193333.3:c.400G>A | NP_001180262.1:p.Val134Met |