Linked Data
ClinVar Variation Id:
914854
ClinVar RCV Id:
RCV001169222
dbSNP Id:
rs1820039673
gnomAD v4:
9-2729841-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.2729841C>A , CM000671.2:g.2729841C>A | GRCh38 |
| NC_000009.11:g.2729841C>A , CM000671.1:g.2729841C>A | GRCh37 |
| NC_000009.10:g.2719841C>A | NCBI36 |
| NG_012181.1:g.17316C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382082.4:c.*114C>A (KCNV2) MANE Select | ENSP00000371514.3:n.*114C>A | |
| ENST00000382082.3:c.*114C>A (KCNV2) | ENSP00000371514.3:n.*114C>A | |
| ENST00000490444.2:c.277-9309G>T (PUM3) | ENSP00000474467.1:n.277-9309G>T | |
| NM_133497.3:c.*114C>A (KCNV2) | NP_598004.1:n.*114C>A | |
| NM_133497.4:c.*114C>A (KCNV2) MANE Select | NP_598004.1:n.*114C>A |