Linked Data
ClinVar Variation Id:
297287
ClinVar RCV Id:
RCV000268190
dbSNP Id:
rs1057515525
gnomAD v2:
1-40766624-G-A
gnomAD v3:
1-40300952-G-A
gnomAD v4:
1-40300952-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40300952G>A , CM000663.2:g.40300952G>A | GRCh38 |
| NC_000001.10:g.40766624G>A , CM000663.1:g.40766624G>A | GRCh37 |
| NC_000001.9:g.40539211G>A | NCBI36 |
| NG_008031.1:g.21316C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372748.8:c.*230C>T MANE Select | ENSP00000361834.3:n.*230C>T | |
| ENST00000372748.7:c.*230C>T | ENSP00000361834.3:n.*230C>T | |
| ENST00000482722.5:n.2603C>T | ||
| NM_001852.3:c.*230C>T | NP_001843.1:n.*230C>T | |
| XM_006710365.2:c.*230C>T | XP_006710428.1:n.*230C>T | |
| XM_011540714.1:c.*230C>T | XP_011539016.1:n.*230C>T | |
| XM_011540715.1:c.*230C>T | XP_011539017.1:n.*230C>T | |
| XM_011540716.1:c.*230C>T | XP_011539018.1:n.*230C>T | |
| XM_011540717.1:c.*230C>T | XP_011539019.1:n.*230C>T | |
| XM_006710365.3:c.*230C>T | XP_006710428.1:n.*230C>T | |
| XM_011540715.2:c.*230C>T | XP_011539017.1:n.*230C>T | |
| XM_011540716.2:c.*230C>T | XP_011539018.1:n.*230C>T | |
| XM_011540717.2:c.*230C>T | XP_011539019.1:n.*230C>T | |
| XM_017000332.1:c.*230C>T | XP_016855821.1:n.*230C>T | |
| XM_017000333.1:c.*230C>T | XP_016855822.1:n.*230C>T | |
| NM_001852.4:c.*230C>T MANE Select | NP_001843.1:n.*230C>T |