Linked Data
ClinVar Variation Id:
156115
dbSNP Id:
rs587777729
gnomAD v4:
3-9890785-G-T
PubMed:
PMID:25129144
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.9890785G>T , CM000665.2:g.9890785G>T | GRCh38 |
| NC_000003.11:g.9932469G>T , CM000665.1:g.9932469G>T | GRCh37 |
| NC_000003.10:g.9907469G>T | NCBI36 |
| NG_041779.1:g.5199G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000489724.2:c.63G>T | ENSP00000497724.1:p.Glu21Asp | |
| ENST00000647897.1:c.63G>T MANE Select | ENSP00000496942.1:p.Glu21Asp | |
| ENST00000307768.4:c.63G>T | ENSP00000306106.4:p.Glu21Asp | |
| ENST00000489724.1:n.153G>T | ||
| ENST00000616966.2:c.63G>T | ENSP00000481606.1:p.Glu21Asp | |
| NM_032492.3:c.63G>T | NP_115881.3:p.Glu21Asp | |
| NM_001363890.1:c.-206G>T | NP_001350819.1:n.-206G>T | |
| NM_032492.4:c.63G>T MANE Select | NP_115881.3:p.Glu21Asp |