Linked Data
ClinVar Variation Id:
3118660
ClinVar RCV Id:
RCV004415024
dbSNP Id:
rs777142298
ExAC:
9:139089195 A / T
gnomAD v2:
9-139089195-A-T
gnomAD v3:
9-136197349-A-T
gnomAD v4:
9-136197349-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136197349A>T , CM000671.2:g.136197349A>T | GRCh38 |
| NC_000009.11:g.139089195A>T , CM000671.1:g.139089195A>T | GRCh37 |
| NC_000009.10:g.138229016A>T | NCBI36 |
| NG_008097.1:g.12761T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371746.9:c.1185T>A | ENSP00000360811.3:p.Asp395Glu | |
| ENST00000371748.10:c.1170T>A MANE Select | ENSP00000360813.4:p.Asp390Glu | |
| ENST00000645419.1:n.1995T>A | ||
| ENST00000371746.7:c.1185T>A | ENSP00000360811.3:p.Asp395Glu | |
| ENST00000371748.9:c.1170T>A | ENSP00000360813.4:p.Asp390Glu | |
| ENST00000619587.1:c.1137T>A | ENSP00000483080.1:p.Asp379Glu | |
| NM_014564.3:c.1185T>A | NP_055379.1:p.Asp395Glu | |
| NM_178138.4:c.1170T>A | NP_835258.1:p.Asp390Glu | |
| XM_005263410.1:c.1137T>A | XP_005263467.1:p.Asp379Glu | |
| NM_001363746.1:c.1137T>A | NP_001350675.1:p.Asp379Glu | |
| NM_014564.4:c.1185T>A | NP_055379.1:p.Asp395Glu | |
| NM_178138.5:c.1170T>A | NP_835258.1:p.Asp390Glu | |
| XM_017015168.1:c.1098T>A | XP_016870657.1:p.Asp366Glu | |
| NM_178138.6:c.1170T>A MANE Select | NP_835258.1:p.Asp390Glu | |
| NM_014564.5:c.1185T>A | NP_055379.1:p.Asp395Glu |