Linked Data
ClinVar Variation Id:
447391
dbSNP Id:
rs754479025
ExAC:
7:44192921 G / A
gnomAD v2:
7-44192921-G-A
gnomAD v3:
7-44153322-G-A
gnomAD v4:
7-44153322-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44153322G>A , CM000669.2:g.44153322G>A | GRCh38 |
| NC_000007.13:g.44192921G>A , CM000669.1:g.44192921G>A | GRCh37 |
| NC_000007.12:g.44159446G>A | NCBI36 |
| NG_008847.1:g.41102C>T | |
| NG_008847.2:g.49849C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*185C>T | ENSP00000379142.4:n.*185C>T | |
| ENST00000616242.5:c.187C>T | ENSP00000482149.2:p.Arg63Cys | |
| ENST00000682635.1:n.673C>T | ||
| ENST00000345378.7:c.190C>T | ENSP00000223366.2:p.Arg64Cys | |
| ENST00000403799.8:c.187C>T MANE Select | ENSP00000384247.3:p.Arg63Cys | |
| ENST00000671824.1:c.187C>T | ENSP00000500264.1:p.Arg63Cys | |
| ENST00000673284.1:c.187C>T | ENSP00000499852.1:p.Arg63Cys | |
| ENST00000345378.6:c.190C>T | ENSP00000223366.2:p.Arg64Cys | |
| ENST00000395796.7:c.184C>T | ENSP00000379142.3:p.Arg62Cys | |
| ENST00000403799.7:c.187C>T | ENSP00000384247.3:p.Arg63Cys | |
| ENST00000437084.1:c.187C>T | ENSP00000402840.1:p.Arg63Cys | |
| ENST00000616242.4:c.184C>T | ENSP00000482149.1:p.Arg62Cys | |
| NM_000162.3:c.187C>T | NP_000153.1:p.Arg63Cys | |
| NM_033507.1:c.190C>T | NP_277042.1:p.Arg64Cys | |
| NM_033508.1:c.184C>T | NP_277043.1:p.Arg62Cys | |
| NM_000162.4:c.187C>T | NP_000153.1:p.Arg63Cys | |
| NM_001354800.1:c.187C>T | NP_001341729.1:p.Arg63Cys | |
| NM_033507.2:c.190C>T | NP_277042.1:p.Arg64Cys | |
| NM_033508.2:c.184C>T | NP_277043.1:p.Arg62Cys | |
| NM_000162.5:c.187C>T MANE Select | NP_000153.1:p.Arg63Cys | |
| NM_033507.3:c.190C>T | NP_277042.1:p.Arg64Cys | |
| NM_033508.3:c.184C>T | NP_277043.1:p.Arg62Cys |