Linked Data
ClinVar Variation Id:
447089
ClinVar RCV Id:
RCV000517532
dbSNP Id:
rs1486642291
gnomAD v2:
1-16354514-G-T
gnomAD v3:
1-16028019-G-T
gnomAD v4:
1-16028019-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16028019G>T , CM000663.2:g.16028019G>T | GRCh38 |
| NC_000001.10:g.16354514G>T , CM000663.1:g.16354514G>T | GRCh37 |
| NC_000001.9:g.16227101G>T | NCBI36 |
| NG_009359.1:g.11029G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331433.5:c.868G>T MANE Select | ENSP00000332771.4:p.Gly290Cys | |
| ENST00000331433.4:c.868G>T | ENSP00000332771.4:p.Gly290Cys | |
| ENST00000375692.5:c.868G>T | ENSP00000364844.1:p.Gly290Cys | |
| ENST00000439316.6:c.739G>T | ENSP00000414445.2:p.Gly247Cys | |
| ENST00000464764.5:n.1431G>T | ||
| ENST00000491433.1:n.284G>T | ||
| NM_001042704.1:c.868G>T | NP_001036169.1:p.Gly290Cys | |
| NM_001257139.1:c.739G>T | NP_001244068.1:p.Gly247Cys | |
| NM_004070.3:c.868G>T | NP_004061.3:p.Gly290Cys | |
| NM_004070.4:c.868G>T MANE Select | NP_004061.3:p.Gly290Cys | |
| NM_001042704.2:c.868G>T | NP_001036169.1:p.Gly290Cys | |
| NM_001257139.2:c.739G>T | NP_001244068.1:p.Gly247Cys |