Linked Data
ClinVar Variation Id:
2293579
ClinVar RCV Id:
RCV004142636
dbSNP Id:
rs1222348624
gnomAD v2:
1-247201541-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.247038239C>G , CM000663.2:g.247038239C>G | GRCh38 |
| NC_000001.10:g.247201541C>G , CM000663.1:g.247201541C>G | GRCh37 |
| NC_000001.9:g.245268164C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366503.3:c.380G>C (ZNF670) MANE Select | ENSP00000355459.2:p.Gly127Ala | |
| ENST00000366503.2:c.380G>C (ZNF670) | ENSP00000355459.2:p.Gly127Ala | |
| ENST00000465049.6:c.4-38165G>C (ZNF670-ZNF695) | ENSP00000428213.1:n.4-38165G>C | |
| ENST00000474541.1:c.4-38165G>C (ZNF670-ZNF695) | ENSP00000428036.1:n.4-38165G>C | |
| NM_001204220.1:c.377G>C (ZNF670) | NP_001191149.1:p.Gly126Ala | |
| NM_033213.4:c.380G>C (ZNF670) | NP_149990.1:p.Gly127Ala | |
| NR_037894.1:n.221-38165G>C (ZNF670-ZNF695) | ||
| NM_033213.5:c.380G>C (ZNF670) MANE Select | NP_149990.1:p.Gly127Ala | |
| NM_001204220.2:c.377G>C (ZNF670) | NP_001191149.1:p.Gly126Ala | |
| NR_037894.2:n.219-38165G>C (ZNF670-ZNF695) |