Linked Data
ClinVar Variation Id:
2472228
ClinVar RCV Id:
RCV004259792
dbSNP Id:
rs762911835
ExAC:
1:247200779 C / T
gnomAD v2:
1-247200779-C-T
gnomAD v3:
1-247037477-C-T
gnomAD v4:
1-247037477-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.247037477C>T , CM000663.2:g.247037477C>T | GRCh38 |
| NC_000001.10:g.247200779C>T , CM000663.1:g.247200779C>T | GRCh37 |
| NC_000001.9:g.245267402C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366503.3:c.1142G>A (ZNF670) MANE Select | ENSP00000355459.2:p.Arg381Gln | |
| ENST00000366503.2:c.1142G>A (ZNF670) | ENSP00000355459.2:p.Arg381Gln | |
| ENST00000465049.6:c.4-37403G>A (ZNF670-ZNF695) | ENSP00000428213.1:n.4-37403G>A | |
| ENST00000474541.1:c.4-37403G>A (ZNF670-ZNF695) | ENSP00000428036.1:n.4-37403G>A | |
| NM_001204220.1:c.1139G>A (ZNF670) | NP_001191149.1:p.Arg380Gln | |
| NM_033213.4:c.1142G>A (ZNF670) | NP_149990.1:p.Arg381Gln | |
| NR_037894.1:n.221-37403G>A (ZNF670-ZNF695) | ||
| NM_033213.5:c.1142G>A (ZNF670) MANE Select | NP_149990.1:p.Arg381Gln | |
| NM_001204220.2:c.1139G>A (ZNF670) | NP_001191149.1:p.Arg380Gln | |
| NR_037894.2:n.219-37403G>A (ZNF670-ZNF695) |