Linked Data
ClinVar Variation Id:
2459619
ClinVar RCV Id:
RCV004254990
dbSNP Id:
rs150882681
ExAC:
1:247201584 T / C
gnomAD v2:
1-247201584-T-C
gnomAD v3:
1-247038282-T-C
gnomAD v4:
1-247038282-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.247038282T>C , CM000663.2:g.247038282T>C | GRCh38 |
| NC_000001.10:g.247201584T>C , CM000663.1:g.247201584T>C | GRCh37 |
| NC_000001.9:g.245268207T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366503.3:c.337A>G (ZNF670) MANE Select | ENSP00000355459.2:p.Ile113Val | |
| ENST00000366503.2:c.337A>G (ZNF670) | ENSP00000355459.2:p.Ile113Val | |
| ENST00000465049.6:c.4-38208A>G (ZNF670-ZNF695) | ENSP00000428213.1:n.4-38208A>G | |
| ENST00000474541.1:c.4-38208A>G (ZNF670-ZNF695) | ENSP00000428036.1:n.4-38208A>G | |
| NM_001204220.1:c.334A>G (ZNF670) | NP_001191149.1:p.Ile112Val | |
| NM_033213.4:c.337A>G (ZNF670) | NP_149990.1:p.Ile113Val | |
| NR_037894.1:n.221-38208A>G (ZNF670-ZNF695) | ||
| NM_033213.5:c.337A>G (ZNF670) MANE Select | NP_149990.1:p.Ile113Val | |
| NM_001204220.2:c.334A>G (ZNF670) | NP_001191149.1:p.Ile112Val | |
| NR_037894.2:n.219-38208A>G (ZNF670-ZNF695) |