Linked Data
ClinVar Variation Id:
1682482
ClinVar RCV Id:
RCV002237081
dbSNP Id:
rs1597986869
gnomAD v4:
17-42901017-C-T
MyVariant Identifiers:
chr17:g.41053034C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42901017C>T , CM000679.2:g.42901017C>T | GRCh38 |
| NC_000017.10:g.41053034C>T , CM000679.1:g.41053034C>T | GRCh37 |
| NC_000017.9:g.38306560C>T | NCBI36 |
| NG_011808.1:g.5220C>T , LRG_147:g.5220C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000253801.7:c.141C>T MANE Select | ENSP00000253801.1:p.Phe47= | |
| ENST00000253801.6:c.141C>T | ENSP00000253801.1:p.Phe47= | |
| ENST00000585489.1:c.141C>T | ENSP00000466202.1:p.Phe47= | |
| ENST00000588481.1:n.206C>T | ||
| ENST00000592383.5:c.141C>T | ENSP00000465958.1:p.Phe47= | |
| NM_000151.3:c.141C>T | NP_000142.2:p.Phe47= | |
| NM_001270397.1:c.141C>T | NP_001257326.1:p.Phe47= | |
| NM_000151.4:c.141C>T MANE Select | NP_000142.2:p.Phe47= | |
| NM_001270397.2:c.141C>T | NP_001257326.1:p.Phe47= |