Linked Data
ClinVar Variation Id:
325225
ClinVar RCV Id:
RCV000310163
dbSNP Id:
rs372653001
ExAC:
17:73754354 G / A
gnomAD v2:
17-73754354-G-A
gnomAD v3:
17-75758273-G-A
gnomAD v4:
17-75758273-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75758273G>A , CM000679.2:g.75758273G>A | GRCh38 |
| NC_000017.10:g.73754354G>A , CM000679.1:g.73754354G>A | GRCh37 |
| NC_000017.9:g.71265949G>A | NCBI36 |
| NG_007372.1:g.41839G>A | |
| NG_008079.1:g.11927C>T | |
| NG_008079.2:g.11927C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000592997.6:c.954C>T | ENSP00000464765.2:p.Phe318= | |
| ENST00000588479.6:c.1044C>T MANE Select | ENSP00000465930.1:p.Phe348= | |
| ENST00000225614.6:c.1044C>T | ENSP00000225614.1:p.Phe348= | |
| ENST00000586733.1:n.246C>T | ||
| ENST00000588479.5:c.1044C>T | ENSP00000465930.1:p.Phe348= | |
| ENST00000589643.1:n.160+87C>T | ||
| ENST00000592997.5:c.420C>T | ENSP00000464765.1:p.Phe140= | |
| NM_000154.1:c.1044C>T | NP_000145.1:p.Phe348= | |
| NM_000154.2:c.1044C>T MANE Select | NP_000145.1:p.Phe348= | |
| NM_001381985.1:c.1044C>T | NP_001368914.1:p.Phe348= |