Linked Data
ClinVar Variation Id:
418870
dbSNP Id:
rs376993881
ExAC:
10:82034829 G / A
gnomAD v2:
10-82034829-G-A
gnomAD v3:
10-80275073-G-A
gnomAD v4:
10-80275073-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80275073G>A , CM000672.2:g.80275073G>A | GRCh38 |
| NC_000010.10:g.82034829G>A , CM000672.1:g.82034829G>A | GRCh37 |
| NC_000010.9:g.82024809G>A | NCBI36 |
| NG_008083.1:g.19606C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372213.8:c.895C>T MANE Select | ENSP00000361287.3:p.Arg299Cys | |
| ENST00000372213.7:c.895C>T | ENSP00000361287.3:p.Arg299Cys | |
| ENST00000480845.1:n.127C>T | ||
| ENST00000485270.5:n.407C>T | ||
| NM_000429.2:c.895C>T | NP_000420.1:p.Arg299Cys | |
| XM_005269842.3:c.895C>T | XP_005269899.1:p.Arg299Cys | |
| XM_005269843.3:c.772C>T | XP_005269900.1:p.Arg258Cys | |
| NM_000429.3:c.895C>T MANE Select | NP_000420.1:p.Arg299Cys |