Linked Data
ClinVar Variation Id:
321878
dbSNP Id:
rs374672916
ExAC:
17:1557220 G / A
gnomAD v2:
17-1557220-G-A
gnomAD v3:
17-1653926-G-A
gnomAD v4:
17-1653926-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1653926G>A , CM000679.2:g.1653926G>A | GRCh38 |
| NC_000017.10:g.1557220G>A , CM000679.1:g.1557220G>A | GRCh37 |
| NC_000017.9:g.1503970G>A | NCBI36 |
| NG_009118.1:g.35957C>T | |
| NG_033061.1:g.1173C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000573725.2:c.5898C>T | ENSP00000460849.2:p.Ile1966= | |
| ENST00000703537.1:c.1826C>T | ||
| ENST00000703538.1:c.*5801C>T | ENSP00000515361.1:n.*5801C>T | |
| ENST00000703539.1:n.2392C>T | ||
| ENST00000703540.1:c.5931C>T | ENSP00000515362.1:p.Ile1977= | |
| ENST00000703541.1:c.5943C>T | ENSP00000515363.1:p.Ile1981= | |
| ENST00000304992.11:c.6078C>T MANE Select | ENSP00000304350.6:p.Ile2026= | |
| ENST00000304992.10:c.6078C>T | ENSP00000304350.6:p.Ile2026= | |
| ENST00000572621.5:c.6078C>T | ENSP00000460348.1:p.Ile2026= | |
| ENST00000576585.1:n.1055C>T | ||
| NM_006445.3:c.6078C>T | NP_006436.3:p.Ile2026= | |
| XM_024450537.1:c.6078C>T | XP_024306305.1:p.Ile2026= | |
| NM_006445.4:c.6078C>T MANE Select | NP_006436.3:p.Ile2026= |