Linked Data
dbSNP Id:
rs2134394230
gnomAD v4:
11-67585169-C-G
MyVariant Identifiers:
chr11:g.67352640C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67585169C>G , CM000673.2:g.67585169C>G | GRCh38 |
| NC_000011.9:g.67352640C>G , CM000673.1:g.67352640C>G | GRCh37 |
| NC_000011.8:g.67109216C>G | NCBI36 |
| NG_012075.1:g.6575C>G , LRG_723:g.6575C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398603.6:c.264C>G | ENSP00000381604.1:p.Ala88= | |
| ENST00000398606.10:c.264C>G MANE Select | ENSP00000381607.3:p.Ala88= | |
| ENST00000646888.1:c.157C>G | ENSP00000494477.1:p.Pro53Ala | |
| ENST00000398603.5:c.264C>G | ENSP00000381604.1:p.Ala88= | |
| ENST00000398606.7:c.264C>G | ENSP00000381607.3:p.Ala88= | |
| ENST00000467591.1:n.375C>G | ||
| ENST00000494593.1:n.1059C>G | ||
| ENST00000498765.5:c.327C>G | ||
| NM_000852.3:c.264C>G , LRG_723t1:c.264C>G | NP_000843.1:p.Ala88= | |
| NM_000852.4:c.264C>G MANE Select | NP_000843.1:p.Ala88= |