Linked Data
ClinVar Variation Id:
357746
dbSNP Id:
rs772707303
ExAC:
6:66204672 C / A
gnomAD v2:
6-66204672-C-A
gnomAD v3:
6-65494779-C-A
gnomAD v4:
6-65494779-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.65494779C>A , CM000668.2:g.65494779C>A | GRCh38 |
| NC_000006.11:g.66204672C>A , CM000668.1:g.66204672C>A | GRCh37 |
| NC_000006.10:g.66261393C>A | NCBI36 |
| NG_023443.1:g.217447G>T | |
| NG_023443.2:g.217447G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000503581.6:c.632G>T MANE Select | ENSP00000424243.1:p.Cys211Phe | |
| ENST00000342421.9:c.632G>T | ENSP00000341818.5:p.Cys211Phe | |
| ENST00000370616.6:c.632G>T | ENSP00000359650.2:p.Cys211Phe | |
| ENST00000370618.7:c.632G>T | ENSP00000359652.4:p.Cys211Phe | |
| ENST00000370621.7:c.632G>T | ENSP00000359655.3:p.Cys211Phe | |
| ENST00000393380.6:c.632G>T | ENSP00000377042.2:p.Cys211Phe | |
| ENST00000471279.1:c.323G>T | ENSP00000420530.1:p.Cys108Phe | |
| ENST00000489873.1:n.1159G>T | ||
| ENST00000503581.5:c.632G>T | ENSP00000424243.1:p.Cys211Phe | |
| NM_001142800.1:c.632G>T | NP_001136272.1:p.Cys211Phe | |
| NM_001142801.1:c.632G>T | NP_001136273.1:p.Cys211Phe | |
| NM_001292009.1:c.632G>T | NP_001278938.1:p.Cys211Phe | |
| NM_198283.1:c.632G>T | NP_938024.1:p.Cys211Phe | |
| NM_001142800.2:c.632G>T MANE Select | NP_001136272.1:p.Cys211Phe | |
| NM_001142801.2:c.632G>T | NP_001136273.1:p.Cys211Phe | |
| NM_001292009.2:c.632G>T | NP_001278938.1:p.Cys211Phe | |
| NM_198283.2:c.632G>T | NP_938024.1:p.Cys211Phe |