Linked Data
ClinVar Variation Id:
161195
dbSNP Id:
rs606231454
ExAC:
1:1471103 G / A
gnomAD v2:
1-1471103-G-A
gnomAD v3:
1-1535723-G-A
gnomAD v4:
1-1535723-G-A
PubMed:
PMID:25070513
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1535723G>A , CM000663.2:g.1535723G>A | GRCh38 |
| NC_000001.10:g.1471103G>A , CM000663.1:g.1471103G>A | GRCh37 |
| NC_000001.9:g.1460966G>A | NCBI36 |
| NG_041807.1:g.9638C>T | |
| NG_053035.1:g.28581G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378733.9:c.239C>T MANE Select | ENSP00000368007.4:p.Thr80Met | |
| ENST00000378733.8:c.239C>T | ENSP00000368007.4:p.Thr80Met | |
| ENST00000425828.1:c.239C>T | ENSP00000400311.1:p.Thr80Met | |
| NM_001114748.1:c.239C>T | NP_001108220.1:p.Thr80Met | |
| NM_001114748.2:c.239C>T MANE Select | NP_001108220.1:p.Thr80Met |