Linked Data
dbSNP Id:
rs112417467
ExAC:
9:2729753 G / A
gnomAD v2:
9-2729753-G-A
gnomAD v3:
9-2729753-G-A
gnomAD v4:
9-2729753-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.2729753G>A , CM000671.2:g.2729753G>A | GRCh38 |
| NC_000009.11:g.2729753G>A , CM000671.1:g.2729753G>A | GRCh37 |
| NC_000009.10:g.2719753G>A | NCBI36 |
| NG_012181.1:g.17228G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382082.4:c.*26G>A (KCNV2) MANE Select | ENSP00000371514.3:n.*26G>A | |
| ENST00000382082.3:c.*26G>A (KCNV2) | ENSP00000371514.3:n.*26G>A | |
| ENST00000490444.2:c.277-9221C>T (PUM3) | ENSP00000474467.1:n.277-9221C>T | |
| NM_133497.3:c.*26G>A (KCNV2) | NP_598004.1:n.*26G>A | |
| NM_133497.4:c.*26G>A (KCNV2) MANE Select | NP_598004.1:n.*26G>A |