Linked Data
ClinVar Variation Id:
10154
ClinVar RCV Id:
RCV000010867
dbSNP Id:
rs137852378
PubMed:
PMID:1301932
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.155022464T>A , CM000685.2:g.155022464T>A | GRCh38 |
| NC_000023.10:g.154250739T>A , CM000685.1:g.154250739T>A | GRCh37 |
| NC_000023.9:g.153903933T>A | NCBI36 |
| NG_011403.1:g.5260A>T | |
| NG_011403.2:g.5260A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.89A>T MANE Select | ENSP00000353393.4:p.Glu30Val | |
| ENST00000647125.1:c.89A>T | ENSP00000496062.1:p.Glu30Val | |
| ENST00000360256.8:c.89A>T | ENSP00000353393.4:p.Glu30Val | |
| ENST00000423959.5:c.38+4316A>T | ENSP00000409446.1:n.38+4316A>T | |
| ENST00000453950.1:c.71A>T | ENSP00000389153.1:p.Glu24Val | |
| NM_000132.3:c.89A>T | NP_000123.1:p.Glu30Val | |
| XM_011531126.1:c.38+4316A>T | XP_011529428.1:n.38+4316A>T | |
| NM_000132.4:c.89A>T MANE Select | NP_000123.1:p.Glu30Val |