Linked Data
ClinVar Variation Id:
214938
dbSNP Id:
rs863224148
PubMed:
PMID:7887408
PMID:10679936
PMID:15384102
PMID:21914562
PMID:23021068
PMID:25526709
PMID:26008863
PMID:26944031
PMID:27144126
PMID:27896109
ERepo:
CA320653/MONDO:0019169/014
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.19350033C>T , CM000685.2:g.19350033C>T | GRCh38 |
| NC_000023.10:g.19368151C>T , CM000685.1:g.19368151C>T | GRCh37 |
| NC_000023.9:g.19278072C>T | NCBI36 |
| NG_016781.1:g.11141C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355808.10:c.214C>T | ENSP00000348062.6:p.Arg72Cys | |
| ENST00000379805.4:c.214C>T | ENSP00000369133.3:p.Arg72Cys | |
| ENST00000417819.6:c.298C>T | ENSP00000404616.2:p.Arg100Cys | |
| ENST00000423505.6:c.328C>T | ENSP00000406473.2:p.Arg110Cys | |
| ENST00000696704.1:c.214C>T | ENSP00000512823.1:p.Arg72Cys | |
| ENST00000696705.1:c.214C>T | ENSP00000512824.1:p.Arg72Cys | |
| ENST00000422285.7:c.214C>T MANE Select | ENSP00000394382.2:p.Arg72Cys | |
| ENST00000355808.9:c.214C>T | ENSP00000348062.5:p.Arg72Cys | |
| ENST00000379805.3:c.214C>T | ENSP00000369133.3:p.Arg72Cys | |
| ENST00000379806.9:c.328C>T | ENSP00000369134.5:p.Arg110Cys | |
| ENST00000417819.5:c.298C>T | ENSP00000404616.1:p.Arg100Cys | |
| ENST00000422285.6:c.214C>T | ENSP00000394382.2:p.Arg72Cys | |
| ENST00000423505.5:c.328C>T | ENSP00000406473.1:p.Arg110Cys | |
| ENST00000492364.1:n.316C>T | ||
| ENST00000540249.5:c.214C>T | ENSP00000440761.1:p.Arg72Cys | |
| ENST00000545074.5:c.214C>T | ENSP00000438550.1:p.Arg72Cys | |
| NM_000284.3:c.214C>T | NP_000275.1:p.Arg72Cys | |
| NM_001173454.1:c.328C>T | NP_001166925.1:p.Arg110Cys | |
| NM_001173455.1:c.214C>T | NP_001166926.1:p.Arg72Cys | |
| NM_001173456.1:c.214C>T | NP_001166927.1:p.Arg72Cys | |
| XM_011545531.1:c.328C>T | XP_011543833.1:p.Arg110Cys | |
| XM_011545532.1:c.328C>T | XP_011543834.1:p.Arg110Cys | |
| XM_017029574.2:c.328C>T | XP_016885063.1:p.Arg110Cys | |
| NM_000284.4:c.214C>T MANE Select | NP_000275.1:p.Arg72Cys | |
| NM_001173454.2:c.328C>T | NP_001166925.1:p.Arg110Cys | |
| NM_001173455.2:c.214C>T | NP_001166926.1:p.Arg72Cys | |
| NM_001173456.2:c.214C>T | NP_001166927.1:p.Arg72Cys |