Linked Data
ClinVar Variation Id:
357763
dbSNP Id:
rs769167992
gnomAD v2:
6-66417101-G-A
gnomAD v3:
6-65707208-G-A
gnomAD v4:
6-65707208-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.65707208G>A , CM000668.2:g.65707208G>A | GRCh38 |
| NC_000006.11:g.66417101G>A , CM000668.1:g.66417101G>A | GRCh37 |
| NC_000006.10:g.66473822G>A | NCBI36 |
| NG_023443.1:g.5018C>T | |
| NG_023443.2:g.5018C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000503581.6:c.-521C>T MANE Select | ENSP00000424243.1:n.-521C>T | |
| ENST00000370621.7:c.-521C>T | ENSP00000359655.3:n.-521C>T | |
| ENST00000393380.6:c.-521C>T | ENSP00000377042.2:n.-521C>T | |
| ENST00000489873.1:n.7C>T | ||
| ENST00000503581.5:c.-521C>T | ENSP00000424243.1:n.-521C>T | |
| NM_001142800.1:c.-521C>T | NP_001136272.1:n.-521C>T | |
| NM_001142801.1:c.-521C>T | NP_001136273.1:n.-521C>T | |
| NM_001292009.1:c.-521C>T | NP_001278938.1:n.-521C>T | |
| NM_001142800.2:c.-521C>T MANE Select | NP_001136272.1:n.-521C>T | |
| NM_001142801.2:c.-521C>T | NP_001136273.1:n.-521C>T | |
| NM_001292009.2:c.-521C>T | NP_001278938.1:n.-521C>T |