Linked Data
dbSNP Id:
rs1830390
gnomAD v2:
11-13996226-G-A
gnomAD v3:
11-13974679-G-A
gnomAD v4:
11-13974679-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.13974679G>A , CM000673.2:g.13974679G>A | GRCh38 |
| NC_000011.9:g.13996226G>A , CM000673.1:g.13996226G>A | GRCh37 |
| NC_000011.8:g.13952802G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000576479.4:c.239-8168G>A MANE Select | ENSP00000460236.1:n.239-8168G>A | |
| ENST00000576479.3:c.239-8168G>A | ENSP00000460236.1:n.239-8168G>A | |
| NM_006108.3:c.239-8168G>A | NP_006099.2:n.239-8168G>A | |
| NM_006108.4:c.239-8168G>A MANE Select | NP_006099.2:n.239-8168G>A |