Linked Data
ClinVar Variation Id:
8528
ClinVar RCV Id:
RCV003488331
dbSNP Id:
rs121909309
gnomAD v2:
20-33519924-G-A
gnomAD v3:
20-34932121-G-A
gnomAD v4:
20-34932121-G-A
PubMed:
PMID:8896573
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.34932121G>A , CM000682.2:g.34932121G>A | GRCh38 |
| NC_000020.10:g.33519924G>A , CM000682.1:g.33519924G>A | GRCh37 |
| NC_000020.9:g.32983585G>A | NCBI36 |
| NG_008848.1:g.28678C>T | |
| NG_008848.2:g.28907C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000642493.1:c.*487C>T | ENSP00000493524.1:n.*487C>T | |
| ENST00000642498.1:c.847C>T | ENSP00000493631.1:p.Arg283Cys | |
| ENST00000642538.1:c.*191C>T | ENSP00000493927.1:n.*191C>T | |
| ENST00000643188.1:c.847C>T | ENSP00000493903.1:p.Arg283Cys | |
| ENST00000643443.1:c.*554C>T | ENSP00000495572.1:n.*554C>T | |
| ENST00000643502.1:c.504C>T | ||
| ENST00000643908.1:n.1065C>T | ||
| ENST00000644538.1:n.1124C>T | ||
| ENST00000644793.1:c.847C>T | ENSP00000495750.1:p.Arg283Cys | |
| ENST00000645328.1:c.225C>T | ||
| ENST00000645408.1:c.380C>T | ||
| ENST00000645723.1:n.2086C>T | ||
| ENST00000646405.1:c.*265C>T | ENSP00000493744.1:n.*265C>T | |
| ENST00000646497.1:n.792C>T | ||
| ENST00000646512.1:n.993C>T | ||
| ENST00000646735.1:c.514C>T | ENSP00000493763.1:p.Arg172Cys | |
| ENST00000651619.1:c.847C>T MANE Select | ENSP00000498303.1:p.Arg283Cys | |
| ENST00000216951.6:c.847C>T | ENSP00000216951.2:p.Arg283Cys | |
| ENST00000451957.2:c.514C>T | ENSP00000407517.2:p.Arg172Cys | |
| NM_000178.2:c.847C>T | NP_000169.1:p.Arg283Cys | |
| XM_005260406.3:c.847C>T | XP_005260463.1:p.Arg283Cys | |
| XM_011528796.1:c.847C>T | XP_011527098.1:p.Arg283Cys | |
| NM_000178.4:c.847C>T MANE Select | NP_000169.1:p.Arg283Cys | |
| NM_001322494.1:c.847C>T | NP_001309423.1:p.Arg283Cys | |
| NM_001322495.1:c.847C>T | NP_001309424.1:p.Arg283Cys |