Linked Data
dbSNP Id:
rs1316667093
gnomAD v2:
11-67377888-G-A
gnomAD v3:
11-67610417-G-A
gnomAD v4:
11-67610417-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67610417G>A , CM000673.2:g.67610417G>A | GRCh38 |
| NC_000011.9:g.67377888G>A , CM000673.1:g.67377888G>A | GRCh37 |
| NC_000011.8:g.67134464G>A | NCBI36 |
| NG_013353.1:g.8566G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322776.11:c.547G>A MANE Select | ENSP00000322450.6:p.Gly183Ser | |
| ENST00000647561.1:c.547G>A | ENSP00000497587.1:p.Gly183Ser | |
| ENST00000322776.10:c.547G>A | ENSP00000322450.6:p.Gly183Ser | |
| ENST00000415352.6:c.526G>A | ENSP00000395368.2:p.Gly176Ser | |
| ENST00000526169.1:n.289G>A | ||
| ENST00000526770.5:n.406G>A | ||
| ENST00000529867.5:c.511G>A | ENSP00000434438.1:p.Gly171Ser | |
| ENST00000529927.5:c.520G>A | ENSP00000436766.1:p.Gly174Ser | |
| ENST00000530638.1:c.430G>A | ENSP00000436936.1:p.Gly144Ser | |
| ENST00000532244.5:c.244G>A | ENSP00000435202.1:p.Gly82Ser | |
| ENST00000532303.5:c.244G>A | ENSP00000432015.1:p.Gly82Ser | |
| ENST00000532343.5:c.244G>A | ENSP00000431751.1:p.Gly82Ser | |
| ENST00000533075.5:c.526G>A | ENSP00000437267.1:p.Gly176Ser | |
| ENST00000533919.5:c.25G>A | ENSP00000435199.1:p.Gly9Ser | |
| NM_001166102.1:c.520G>A | NP_001159574.1:p.Gly174Ser | |
| NM_007103.3:c.547G>A | NP_009034.2:p.Gly183Ser | |
| NM_001166102.2:c.520G>A | NP_001159574.1:p.Gly174Ser | |
| NM_007103.4:c.547G>A MANE Select | NP_009034.2:p.Gly183Ser |