Linked Data
ClinVar Variation Id:
955211
ClinVar RCV Id:
RCV001227811
dbSNP Id:
rs1461711190
gnomAD v3:
9-2729548-A-G
gnomAD v4:
9-2729548-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.2729548A>G , CM000671.2:g.2729548A>G | GRCh38 |
| NC_000009.11:g.2729548A>G , CM000671.1:g.2729548A>G | GRCh37 |
| NC_000009.10:g.2719548A>G | NCBI36 |
| NG_012181.1:g.17023A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382082.4:c.1459A>G (KCNV2) MANE Select | ENSP00000371514.3:p.Met487Val | |
| ENST00000382082.3:c.1459A>G (KCNV2) | ENSP00000371514.3:p.Met487Val | |
| ENST00000490444.2:c.277-9016T>C (PUM3) | ENSP00000474467.1:n.277-9016T>C | |
| NM_133497.3:c.1459A>G (KCNV2) | NP_598004.1:p.Met487Val | |
| NM_133497.4:c.1459A>G (KCNV2) MANE Select | NP_598004.1:p.Met487Val |