Linked Data
ClinVar Variation Id:
56098
dbSNP Id:
rs386833580
gnomAD v4:
9-6610345-T-C
PubMed:
PMID:16404748
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6610345T>C , CM000671.2:g.6610345T>C | GRCh38 |
| NC_000009.11:g.6610345T>C , CM000671.1:g.6610345T>C | GRCh37 |
| NC_000009.10:g.6600345T>C | NCBI36 |
| NG_016397.1:g.40348A>G , LRG_643:g.40348A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.482A>G MANE Select | ENSP00000370737.4:p.Tyr161Cys | |
| ENST00000639020.1:c.77A>G | ENSP00000491392.1:p.Tyr26Cys | |
| ENST00000639364.1:n.182A>G | ||
| ENST00000639840.1:c.188A>G | ENSP00000491161.1:p.Tyr63Cys | |
| ENST00000639954.1:n.190A>G | ||
| ENST00000640592.1:n.365A>G | ||
| ENST00000321612.6:c.482A>G | ENSP00000370737.3:p.Tyr161Cys | |
| NM_000170.2:c.482A>G , LRG_643t1:c.482A>G | NP_000161.2:p.Tyr161Cys | |
| NM_000170.3:c.482A>G MANE Select | NP_000161.2:p.Tyr161Cys |