Linked Data
ClinVar Variation Id:
31009
dbSNP Id:
rs267607326
gnomAD v4:
12-6022841-T-C
PubMed:
PMID:20351307
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6022841T>C , CM000674.2:g.6022841T>C | GRCh38 |
| NC_000012.11:g.6132007T>C , CM000674.1:g.6132007T>C | GRCh37 |
| NC_000012.10:g.6002268T>C | NCBI36 |
| NG_009072.1:g.106830A>G | |
| NG_009072.2:g.106830A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261405.10:c.3437A>G MANE Select | ENSP00000261405.5:p.Tyr1146Cys | |
| ENST00000261405.9:c.3437A>G | ENSP00000261405.5:p.Tyr1146Cys | |
| ENST00000538635.5:n.421-28907A>G | ||
| NM_000552.3:c.3437A>G | NP_000543.2:p.Tyr1146Cys | |
| NM_000552.4:c.3437A>G | NP_000543.2:p.Tyr1146Cys | |
| NM_000552.5:c.3437A>G MANE Select | NP_000543.3:p.Tyr1146Cys |