Linked Data
ClinVar Variation Id:
775245
ClinVar RCV Id:
RCV000955368
dbSNP Id:
rs41266313
ExAC:
6:168467448 C / T
gnomAD v2:
6-168467448-C-T
gnomAD v3:
6-168066768-C-T
gnomAD v4:
6-168066768-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.168066768C>T , CM000668.2:g.168066768C>T | GRCh38 |
| NC_000006.11:g.168467448C>T , CM000668.1:g.168467448C>T | GRCh37 |
| NC_000006.10:g.168210297C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283309.11:c.448G>A MANE Select | ENSP00000283309.6:p.Gly150Arg | |
| ENST00000644440.1:c.367G>A | ENSP00000496464.1:p.Gly123Arg | |
| ENST00000646385.1:c.574G>A | ENSP00000494166.1:p.Gly192Arg | |
| ENST00000283309.10:c.448G>A | ENSP00000283309.6:p.Gly150Arg | |
| ENST00000336070.11:n.221G>A | ||
| ENST00000358587.5:n.450G>A | ||
| ENST00000440994.6:c.244G>A | ENSP00000414115.2:p.Gly82Arg | |
| ENST00000468647.5:c.863G>A | ENSP00000427668.1:n.863G>A | |
| ENST00000506415.1:n.274G>A | ||
| ENST00000509157.5:c.626G>A | ENSP00000423552.1:n.626G>A | |
| ENST00000511714.2:c.574G>A | ENSP00000424439.2:p.Gly192Arg | |
| NM_001122841.2:c.244G>A | NP_001116313.1:p.Gly82Arg | |
| NM_024919.4:c.448G>A | NP_079195.3:p.Gly150Arg | |
| NR_110312.1:n.891G>A | ||
| XM_011536136.1:c.724G>A | XP_011534438.1:p.Gly242Arg | |
| XM_011536137.1:c.574G>A | XP_011534439.1:p.Gly192Arg | |
| XM_011536138.1:c.388G>A | XP_011534440.1:p.Gly130Arg | |
| XM_011536139.1:c.367G>A | XP_011534441.1:p.Gly123Arg | |
| XM_011536140.1:c.307G>A | XP_011534442.1:p.Gly103Arg | |
| XM_011536141.1:c.250G>A | XP_011534443.1:p.Gly84Arg | |
| XM_011536142.1:c.250G>A | XP_011534444.1:p.Gly84Arg | |
| XM_011536143.1:c.250G>A | XP_011534445.1:p.Gly84Arg | |
| XM_011536144.1:c.250G>A | XP_011534446.1:p.Gly84Arg | |
| XM_011536145.1:c.244G>A | XP_011534447.1:p.Gly82Arg | |
| XM_011536142.2:c.250G>A | XP_011534444.1:p.Gly84Arg | |
| XM_017011317.1:c.574G>A | XP_016866806.1:p.Gly192Arg | |
| NM_001122841.3:c.244G>A | NP_001116313.1:p.Gly82Arg | |
| NM_024919.5:c.448G>A | NP_079195.3:p.Gly150Arg | |
| NM_024919.6:c.448G>A MANE Select | NP_079195.3:p.Gly150Arg | |
| NR_110312.2:n.891G>A | ||
| NM_001394681.1:c.184G>A | NP_001381610.1:p.Gly62Arg |