Linked Data
ClinVar Variation Id:
855325
ClinVar RCV Id:
RCV001060571
dbSNP Id:
rs1041090491
gnomAD v2:
9-2729443-C-T
gnomAD v3:
9-2729443-C-T
gnomAD v4:
9-2729443-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.2729443C>T , CM000671.2:g.2729443C>T | GRCh38 |
| NC_000009.11:g.2729443C>T , CM000671.1:g.2729443C>T | GRCh37 |
| NC_000009.10:g.2719443C>T | NCBI36 |
| NG_012181.1:g.16918C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382082.4:c.1357-3C>T (KCNV2) MANE Select | ENSP00000371514.3:n.1357-3C>T | |
| ENST00000382082.3:c.1357-3C>T (KCNV2) | ENSP00000371514.3:n.1357-3C>T | |
| ENST00000490444.2:c.277-8911G>A (PUM3) | ENSP00000474467.1:n.277-8911G>A | |
| NM_133497.3:c.1357-3C>T (KCNV2) | NP_598004.1:n.1357-3C>T | |
| XR_929202.1:n.2002-3C>T (KCNV2) | ||
| NM_133497.4:c.1357-3C>T (KCNV2) MANE Select | NP_598004.1:n.1357-3C>T |