Linked Data
dbSNP Id:
rs755091416
ExAC:
9:2729558 C / G
gnomAD v2:
9-2729558-C-G
gnomAD v4:
9-2729558-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.2729558C>G , CM000671.2:g.2729558C>G | GRCh38 |
| NC_000009.11:g.2729558C>G , CM000671.1:g.2729558C>G | GRCh37 |
| NC_000009.10:g.2719558C>G | NCBI36 |
| NG_012181.1:g.17033C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382082.4:c.1469C>G (KCNV2) MANE Select | ENSP00000371514.3:p.Ser490Cys | |
| ENST00000382082.3:c.1469C>G (KCNV2) | ENSP00000371514.3:p.Ser490Cys | |
| ENST00000490444.2:c.277-9026G>C (PUM3) | ENSP00000474467.1:n.277-9026G>C | |
| NM_133497.3:c.1469C>G (KCNV2) | NP_598004.1:p.Ser490Cys | |
| NM_133497.4:c.1469C>G (KCNV2) MANE Select | NP_598004.1:p.Ser490Cys |