Linked Data
ClinVar Variation Id:
1123903
ClinVar RCV Id:
RCV001455094
dbSNP Id:
rs112479446
ExAC:
9:2729544 C / T
gnomAD v2:
9-2729544-C-T
gnomAD v3:
9-2729544-C-T
gnomAD v4:
9-2729544-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.2729544C>T , CM000671.2:g.2729544C>T | GRCh38 |
| NC_000009.11:g.2729544C>T , CM000671.1:g.2729544C>T | GRCh37 |
| NC_000009.10:g.2719544C>T | NCBI36 |
| NG_012181.1:g.17019C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382082.4:c.1455C>T (KCNV2) MANE Select | ENSP00000371514.3:p.Asn485= | |
| ENST00000382082.3:c.1455C>T (KCNV2) | ENSP00000371514.3:p.Asn485= | |
| ENST00000490444.2:c.277-9012G>A (PUM3) | ENSP00000474467.1:n.277-9012G>A | |
| NM_133497.3:c.1455C>T (KCNV2) | NP_598004.1:p.Asn485= | |
| NM_133497.4:c.1455C>T (KCNV2) MANE Select | NP_598004.1:p.Asn485= |