Linked Data
ClinVar Variation Id:
3211979
ClinVar RCV Id:
RCV004498845
dbSNP Id:
rs1390648360
gnomAD v2:
4-166254537-A-T
gnomAD v3:
4-165333385-A-T
gnomAD v4:
4-165333385-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.165333385A>T , CM000666.2:g.165333385A>T | GRCh38 |
| NC_000004.11:g.166254537A>T , CM000666.1:g.166254537A>T | GRCh37 |
| NC_000004.10:g.166473987A>T | NCBI36 |
| NG_042288.1:g.10720A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261507.11:c.15A>T MANE Select | ENSP00000261507.6:p.Glu5Asp | |
| ENST00000261507.10:c.15A>T | ENSP00000261507.6:p.Glu5Asp | |
| ENST00000393766.6:c.-138-4404A>T | ENSP00000377361.2:n.-138-4404A>T | |
| ENST00000504317.1:c.15A>T | ENSP00000423633.1:p.Glu5Asp | |
| ENST00000505270.1:c.15A>T | ENSP00000425112.1:p.Glu5Asp | |
| ENST00000507013.5:c.15A>T | ENSP00000425241.1:p.Glu5Asp | |
| NM_001017369.2:c.-138-4404A>T | NP_001017369.1:n.-138-4404A>T | |
| NM_006745.4:c.15A>T | NP_006736.1:p.Glu5Asp | |
| XM_005263176.1:c.15A>T | XP_005263233.1:p.Glu5Asp | |
| XM_005263176.2:c.15A>T | XP_005263233.1:p.Glu5Asp | |
| NM_006745.5:c.15A>T MANE Select | NP_006736.1:p.Glu5Asp | |
| NM_001017369.3:c.-138-4404A>T | NP_001017369.1:n.-138-4404A>T |