Linked Data
dbSNP Id:
rs1426602822
gnomAD v3:
11-13974627-A-G
gnomAD v4:
11-13974627-A-G
MyVariant Identifiers:
chr11:g.13974627A>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.13974627A>G , CM000673.2:g.13974627A>G | GRCh38 |
| NC_000011.9:g.13996174A>G , CM000673.1:g.13996174A>G | GRCh37 |
| NC_000011.8:g.13952750A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000576479.4:c.239-8220A>G MANE Select | ENSP00000460236.1:n.239-8220A>G | |
| ENST00000576479.3:c.239-8220A>G | ENSP00000460236.1:n.239-8220A>G | |
| NM_006108.3:c.239-8220A>G | NP_006099.2:n.239-8220A>G | |
| NM_006108.4:c.239-8220A>G MANE Select | NP_006099.2:n.239-8220A>G |