Linked Data
ClinVar Variation Id:
188945
ClinVar RCV Id:
RCV000169319
dbSNP Id:
rs367727229
ExAC:
17:41063381 G / T
gnomAD v2:
17-41063381-G-T
gnomAD v3:
17-42911364-G-T
gnomAD v4:
17-42911364-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42911364G>T , CM000679.2:g.42911364G>T | GRCh38 |
| NC_000017.10:g.41063381G>T , CM000679.1:g.41063381G>T | GRCh37 |
| NC_000017.9:g.38316907G>T | NCBI36 |
| NG_011808.1:g.15567G>T , LRG_147:g.15567G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253801.7:c.1012G>T MANE Select | ENSP00000253801.1:p.Val338Phe | |
| ENST00000253801.6:c.1012G>T | ENSP00000253801.1:p.Val338Phe | |
| ENST00000585489.1:c.*404G>T | ENSP00000466202.1:n.*404G>T | |
| NM_000151.3:c.1012G>T | NP_000142.2:p.Val338Phe | |
| NM_001270397.1:c.*404G>T | NP_001257326.1:n.*404G>T | |
| NM_000151.4:c.1012G>T MANE Select | NP_000142.2:p.Val338Phe | |
| NM_001270397.2:c.*404G>T | NP_001257326.1:n.*404G>T |