Linked Data
ClinVar Variation Id:
3003839
ClinVar RCV Id:
RCV003863414
dbSNP Id:
rs376822283
gnomAD v2:
9-2729508-T-C
gnomAD v4:
9-2729508-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.2729508T>C , CM000671.2:g.2729508T>C | GRCh38 |
| NC_000009.11:g.2729508T>C , CM000671.1:g.2729508T>C | GRCh37 |
| NC_000009.10:g.2719508T>C | NCBI36 |
| NG_012181.1:g.16983T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382082.4:c.1419T>C (KCNV2) MANE Select | ENSP00000371514.3:p.Phe473= | |
| ENST00000382082.3:c.1419T>C (KCNV2) | ENSP00000371514.3:p.Phe473= | |
| ENST00000490444.2:c.277-8976A>G (PUM3) | ENSP00000474467.1:n.277-8976A>G | |
| NM_133497.3:c.1419T>C (KCNV2) | NP_598004.1:p.Phe473= | |
| XR_929202.1:n.2064T>C (KCNV2) | ||
| NM_133497.4:c.1419T>C (KCNV2) MANE Select | NP_598004.1:p.Phe473= |