Linked Data
dbSNP Id:
rs1280919968
gnomAD v4:
11-67585223-C-A
MyVariant Identifiers:
chr11:g.67352694C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67585223C>A , CM000673.2:g.67585223C>A | GRCh38 |
| NC_000011.9:g.67352694C>A , CM000673.1:g.67352694C>A | GRCh37 |
| NC_000011.8:g.67109270C>A | NCBI36 |
| NG_012075.1:g.6629C>A , LRG_723:g.6629C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000398603.6:c.318C>A | ENSP00000381604.1:p.Ser106= | |
| ENST00000398606.10:c.318C>A MANE Select | ENSP00000381607.3:p.Ser106= | |
| ENST00000646888.1:c.*34C>A | ENSP00000494477.1:n.*34C>A | |
| ENST00000398603.5:c.318C>A | ENSP00000381604.1:p.Ser106= | |
| ENST00000398606.7:c.318C>A | ENSP00000381607.3:p.Ser106= | |
| ENST00000467591.1:n.429C>A | ||
| ENST00000494593.1:n.1113C>A | ||
| ENST00000498765.5:c.381C>A | ||
| NM_000852.3:c.318C>A , LRG_723t1:c.318C>A | NP_000843.1:p.Ser106= | |
| NM_000852.4:c.318C>A MANE Select | NP_000843.1:p.Ser106= |