Linked Data
ClinVar Variation Id:
192241
ClinVar RCV Id:
RCV000192212
dbSNP Id:
rs797044603
gnomAD v2:
6-41129279-T-C
gnomAD v4:
6-41161541-T-C
PubMed:
PMID:20301376
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.41161541T>C , CM000668.2:g.41161541T>C | GRCh38 |
| NC_000006.11:g.41129279T>C , CM000668.1:g.41129279T>C | GRCh37 |
| NC_000006.10:g.41237257T>C | NCBI36 |
| NG_011561.1:g.6644A>G , LRG_631:g.6644A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000373113.8:c.113A>G MANE Select | ENSP00000362205.3:p.Tyr38Cys | |
| ENST00000338469.3:c.113A>G | ENSP00000342651.4:p.Tyr38Cys | |
| ENST00000373113.7:c.113A>G | ENSP00000362205.3:p.Tyr38Cys | |
| ENST00000373122.8:c.113A>G | ENSP00000362214.4:p.Tyr38Cys | |
| NM_001271821.1:c.113A>G | NP_001258750.1:p.Tyr38Cys | |
| NM_018965.3:c.113A>G , LRG_631t1:c.113A>G | NP_061838.1:p.Tyr38Cys | |
| XM_006715116.2:c.130+1502A>G | XP_006715179.1:n.130+1502A>G | |
| XR_926795.1:n.222+5978T>C | ||
| XR_926796.1:n.214+5978T>C | ||
| XR_926797.1:n.188+5978T>C | ||
| XR_926795.2:n.517+5978T>C | ||
| XR_926797.2:n.232+5978T>C | ||
| NM_001271821.2:c.113A>G | NP_001258750.1:p.Tyr38Cys | |
| NM_018965.4:c.113A>G MANE Select | NP_061838.1:p.Tyr38Cys |