Linked Data
ClinVar Variation Id:
17789
dbSNP Id:
rs28929478
gnomAD v4:
12-110281857-G-A
PubMed:
PMID:10080178
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110281857G>A , CM000674.2:g.110281857G>A | GRCh38 |
| NC_000012.11:g.110719662G>A , CM000674.1:g.110719662G>A | GRCh37 |
| NC_000012.10:g.109204045G>A | NCBI36 |
| NG_007097.2:g.5231G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000552636.2:c.-257-747G>A | ENSP00000447406.2:n.-257-747G>A | |
| ENST00000539276.7:c.68G>A MANE Select | ENSP00000440045.2:p.Gly23Glu | |
| ENST00000308664.10:c.68G>A | ENSP00000311186.6:p.Gly23Glu | |
| ENST00000377685.9:c.68G>A | ENSP00000366913.4:p.Gly23Glu | |
| ENST00000539276.6:c.68G>A | ENSP00000440045.2:p.Gly23Glu | |
| ENST00000552636.1:c.-183-747G>A | ENSP00000447406.1:n.-183-747G>A | |
| NM_001681.3:c.68G>A | NP_001672.1:p.Gly23Glu | |
| NM_170665.3:c.68G>A | NP_733765.1:p.Gly23Glu | |
| XM_005253888.1:c.68G>A | XP_005253945.1:p.Gly23Glu | |
| XM_011538402.1:c.68G>A | XP_011536704.1:p.Gly23Glu | |
| XM_011538403.1:c.68G>A | XP_011536705.1:p.Gly23Glu | |
| XR_243009.1:n.74G>A | ||
| XM_005253888.3:c.68G>A | XP_005253945.1:p.Gly23Glu | |
| XM_011538402.3:c.68G>A | XP_011536704.1:p.Gly23Glu | |
| XR_002957329.1:n.74G>A | ||
| XR_243009.3:n.74G>A | ||
| NM_170665.4:c.68G>A MANE Select | NP_733765.1:p.Gly23Glu | |
| NM_001681.4:c.68G>A | NP_001672.1:p.Gly23Glu |