Linked Data
ClinVar Variation Id:
295943
dbSNP Id:
rs200781118
ExAC:
1:225605777 G / T
gnomAD v2:
1-225605777-G-T
gnomAD v3:
1-225418075-G-T
gnomAD v4:
1-225418075-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.225418075G>T , CM000663.2:g.225418075G>T | GRCh38 |
| NC_000001.10:g.225605777G>T , CM000663.1:g.225605777G>T | GRCh37 |
| NC_000001.9:g.223672400G>T | NCBI36 |
| NG_008099.1:g.15743C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272163.9:c.746C>A MANE Select | ENSP00000272163.4:p.Ala249Asp | |
| ENST00000651341.1:c.746C>A | ENSP00000499114.1:p.Ala249Asp | |
| ENST00000272163.8:c.746C>A | ENSP00000272163.4:p.Ala249Asp | |
| ENST00000338179.6:c.746C>A | ENSP00000339883.2:p.Ala249Asp | |
| ENST00000487054.1:n.206C>A | ||
| NM_002296.3:c.746C>A | NP_002287.2:p.Ala249Asp | |
| NM_194442.2:c.746C>A | NP_919424.1:p.Ala249Asp | |
| XM_005273125.2:c.746C>A | XP_005273182.1:p.Ala249Asp | |
| XM_011544185.1:c.746C>A | XP_011542487.1:p.Ala249Asp | |
| XM_011544186.1:c.746C>A | XP_011542488.1:p.Ala249Asp | |
| XM_011544187.1:c.746C>A | XP_011542489.1:p.Ala249Asp | |
| XM_005273125.3:c.746C>A | XP_005273182.1:p.Ala249Asp | |
| XM_011544185.3:c.746C>A | XP_011542487.1:p.Ala249Asp | |
| XR_001737168.2:n.873C>A | ||
| NM_002296.4:c.746C>A MANE Select | NP_002287.2:p.Ala249Asp | |
| NM_194442.3:c.746C>A | NP_919424.1:p.Ala249Asp |