Linked Data
ClinVar Variation Id:
2364175
ClinVar RCV Id:
RCV004206353
dbSNP Id:
rs747264401
ExAC:
1:202097577 G / A
gnomAD v2:
1-202097577-G-A
gnomAD v3:
1-202128449-G-A
gnomAD v4:
1-202128449-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.202128449G>A , CM000663.2:g.202128449G>A | GRCh38 |
| NC_000001.10:g.202097577G>A , CM000663.1:g.202097577G>A | GRCh37 |
| NC_000001.9:g.200364200G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682422.1:n.920G>A | ||
| ENST00000682545.1:c.*345G>A | ENSP00000508402.1:n.*345G>A | |
| ENST00000682887.1:c.1740G>A | ENSP00000506946.1:n.1740G>A | |
| ENST00000683302.1:c.1270G>A | ENSP00000507885.1:p.Ala424Thr | |
| ENST00000683557.1:c.*171G>A | ENSP00000508029.1:n.*171G>A | |
| ENST00000367282.6:c.1339G>A MANE Select | ENSP00000356251.4:p.Ala447Thr | |
| ENST00000367282.5:c.1339G>A | ENSP00000356251.4:p.Ala447Thr | |
| NM_004767.3:c.1339G>A | NP_004758.3:p.Ala447Thr | |
| XM_011510158.1:c.778G>A | XP_011508460.1:p.Ala260Thr | |
| NM_004767.4:c.1339G>A | NP_004758.3:p.Ala447Thr | |
| XM_011510158.2:c.778G>A | XP_011508460.1:p.Ala260Thr | |
| NM_004767.5:c.1339G>A MANE Select | NP_004758.3:p.Ala447Thr |