Linked Data
ClinVar Variation Id:
2615946
ClinVar RCV Id:
RCV004358980
dbSNP Id:
rs755187559
gnomAD v4:
1-247037856-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.247037856A>G , CM000663.2:g.247037856A>G | GRCh38 |
| NC_000001.10:g.247201158A>G , CM000663.1:g.247201158A>G | GRCh37 |
| NC_000001.9:g.245267781A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366503.3:c.763T>C (ZNF670) MANE Select | ENSP00000355459.2:p.Cys255Arg | |
| ENST00000366503.2:c.763T>C (ZNF670) | ENSP00000355459.2:p.Cys255Arg | |
| ENST00000465049.6:c.4-37782T>C (ZNF670-ZNF695) | ENSP00000428213.1:n.4-37782T>C | |
| ENST00000474541.1:c.4-37782T>C (ZNF670-ZNF695) | ENSP00000428036.1:n.4-37782T>C | |
| NM_001204220.1:c.760T>C (ZNF670) | NP_001191149.1:p.Cys254Arg | |
| NM_033213.4:c.763T>C (ZNF670) | NP_149990.1:p.Cys255Arg | |
| NR_037894.1:n.221-37782T>C (ZNF670-ZNF695) | ||
| NM_033213.5:c.763T>C (ZNF670) MANE Select | NP_149990.1:p.Cys255Arg | |
| NM_001204220.2:c.760T>C (ZNF670) | NP_001191149.1:p.Cys254Arg | |
| NR_037894.2:n.219-37782T>C (ZNF670-ZNF695) |