Linked Data
ClinVar Variation Id:
3544
dbSNP Id:
rs121434292
gnomAD v2:
8-145641385-G-A
gnomAD v3:
8-144416001-G-A
gnomAD v4:
8-144416001-G-A
PubMed:
PMID:12787121
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144416001G>A , CM000670.2:g.144416001G>A | GRCh38 |
| NC_000008.10:g.145641385G>A , CM000670.1:g.145641385G>A | GRCh37 |
| NC_000008.9:g.145612193G>A | NCBI36 |
| NG_012234.2:g.5890C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301305.8:c.283C>T MANE Select | ENSP00000301305.4:p.Arg95Cys | |
| ENST00000276833.9:c.208C>T | ENSP00000276833.5:p.Arg70Cys | |
| ENST00000301305.7:c.283C>T | ENSP00000301305.3:p.Arg95Cys | |
| ENST00000526658.1:c.193-582C>T | ENSP00000434512.1:n.193-582C>T | |
| NM_017767.2:c.208C>T | NP_060237.2:p.Arg70Cys | |
| NM_130849.3:c.283C>T | NP_570901.2:p.Arg95Cys | |
| XM_006716599.1:c.283C>T | XP_006716662.1:p.Arg95Cys | |
| XM_011517153.1:c.193-582C>T | XP_011515455.1:n.193-582C>T | |
| XM_024447188.1:c.193-582C>T | XP_024302956.1:n.193-582C>T | |
| XM_024447189.1:c.193-582C>T | XP_024302957.1:n.193-582C>T | |
| NM_001374839.1:c.193-582C>T | NP_001361768.1:n.193-582C>T | |
| NM_017767.3:c.208C>T | NP_060237.3:p.Arg70Cys | |
| NM_130849.4:c.283C>T MANE Select | NP_570901.3:p.Arg95Cys |