Linked Data
ClinVar Variation Id:
1967458
ClinVar RCV Id:
RCV002722053
dbSNP Id:
rs577472863
ExAC:
9:2729682 T / C
gnomAD v2:
9-2729682-T-C
gnomAD v3:
9-2729682-T-C
gnomAD v4:
9-2729682-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.2729682T>C , CM000671.2:g.2729682T>C | GRCh38 |
| NC_000009.11:g.2729682T>C , CM000671.1:g.2729682T>C | GRCh37 |
| NC_000009.10:g.2719682T>C | NCBI36 |
| NG_012181.1:g.17157T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382082.4:c.1593T>C (KCNV2) MANE Select | ENSP00000371514.3:p.Cys531= | |
| ENST00000382082.3:c.1593T>C (KCNV2) | ENSP00000371514.3:p.Cys531= | |
| ENST00000490444.2:c.277-9150A>G (PUM3) | ENSP00000474467.1:n.277-9150A>G | |
| NM_133497.3:c.1593T>C (KCNV2) | NP_598004.1:p.Cys531= | |
| NM_133497.4:c.1593T>C (KCNV2) MANE Select | NP_598004.1:p.Cys531= |