Linked Data
ClinVar Variation Id:
357721
dbSNP Id:
rs566917467
ExAC:
6:65596607 C / A
gnomAD v2:
6-65596607-C-A
gnomAD v3:
6-64886714-C-A
gnomAD v4:
6-64886714-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.64886714C>A , CM000668.2:g.64886714C>A | GRCh38 |
| NC_000006.11:g.65596607C>A , CM000668.1:g.65596607C>A | GRCh37 |
| NC_000006.10:g.65653328C>A | NCBI36 |
| NG_023443.1:g.825512G>T | |
| NG_023443.2:g.825512G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000503581.6:c.2975G>T MANE Select | ENSP00000424243.1:p.Cys992Phe | |
| ENST00000370616.6:c.2975G>T | ENSP00000359650.2:p.Cys992Phe | |
| ENST00000370618.7:c.2975G>T | ENSP00000359652.4:p.Cys992Phe | |
| ENST00000370621.7:c.2975G>T | ENSP00000359655.3:p.Cys992Phe | |
| ENST00000503581.5:c.2975G>T | ENSP00000424243.1:p.Cys992Phe | |
| NM_001142800.1:c.2975G>T | NP_001136272.1:p.Cys992Phe | |
| NM_001292009.1:c.2975G>T | NP_001278938.1:p.Cys992Phe | |
| NM_001142800.2:c.2975G>T MANE Select | NP_001136272.1:p.Cys992Phe | |
| NM_001292009.2:c.2975G>T | NP_001278938.1:p.Cys992Phe |