Linked Data
ClinVar Variation Id:
356031
dbSNP Id:
rs763011032
ExAC:
6:167344565 C / T
gnomAD v2:
6-167344565-C-T
gnomAD v4:
6-166931077-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.166931077C>T , CM000668.2:g.166931077C>T | GRCh38 |
| NC_000006.11:g.167344565C>T , CM000668.1:g.167344565C>T | GRCh37 |
| NC_000006.10:g.167264555C>T | NCBI36 |
| NG_016280.1:g.30513G>A | |
| NG_016280.2:g.30513G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000611959.2:c.*322G>A | ENSP00000480244.2:n.*322G>A | |
| ENST00000620173.5:c.420G>A | ENSP00000482755.2:p.Val140= | |
| ENST00000682498.1:n.2652G>A | ||
| ENST00000682774.1:c.*375G>A | ENSP00000507399.1:n.*375G>A | |
| ENST00000683770.1:c.288G>A | ENSP00000507710.1:p.Val96= | |
| ENST00000683968.1:n.3026G>A | ||
| ENST00000684236.1:c.258G>A | ENSP00000508128.1:p.Val86= | |
| ENST00000508775.6:c.534G>A MANE Select | ENSP00000426455.2:p.Val178= | |
| ENST00000028008.9:c.*322G>A | ENSP00000028008.5:n.*322G>A | |
| ENST00000366855.10:c.420G>A | ENSP00000424947.1:p.Val140= | |
| ENST00000421787.5:c.*888G>A | ENSP00000390833.1:n.*888G>A | |
| ENST00000467705.6:n.332G>A | ||
| ENST00000476238.6:c.534G>A | ENSP00000422846.1:p.Val178= | |
| ENST00000478180.6:c.534G>A | ENSP00000426059.1:p.Val178= | |
| ENST00000507747.1:c.434+3014G>A | ||
| ENST00000508775.5:c.534G>A | ENSP00000426455.1:p.Val178= | |
| ENST00000510083.1:n.1973G>A | ||
| ENST00000620173.4:c.684G>A | ENSP00000482755.1:p.Val228= | |
| NM_003730.4:c.534G>A | NP_003721.2:p.Val178= | |
| NM_003730.5:c.534G>A | NP_003721.2:p.Val178= | |
| XM_017011397.1:c.420G>A | XP_016866886.1:p.Val140= | |
| XM_017011398.1:c.258G>A | XP_016866887.1:p.Val86= | |
| XM_017011399.1:c.488G>A | XP_016866888.1:p.Ter163= | |
| XM_024446575.1:c.258G>A | XP_024302343.1:p.Val86= | |
| XM_024446576.1:c.258G>A | XP_024302344.1:p.Val86= | |
| NM_003730.6:c.534G>A MANE Select | NP_003721.2:p.Val178= |