Linked Data
ClinVar Variation Id:
64478
dbSNP Id:
rs387907420
ExAC:
1:43200761 A / T
gnomAD v2:
1-43200761-A-T
gnomAD v3:
1-42735090-A-T
gnomAD v4:
1-42735090-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42735090A>T , CM000663.2:g.42735090A>T | GRCh38 |
| NC_000001.10:g.43200761A>T , CM000663.1:g.43200761A>T | GRCh37 |
| NC_000001.9:g.42973348A>T | NCBI36 |
| NG_008993.1:g.10165T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296387.6:c.671T>A MANE Select | ENSP00000296387.1:p.Val224Glu | |
| ENST00000296387.5:c.671T>A | ENSP00000296387.1:p.Val224Glu | |
| ENST00000372539.3:c.*778T>A | ENSP00000361617.3:n.*778T>A | |
| ENST00000539749.5:c.*672T>A | ENSP00000443229.1:n.*672T>A | |
| NM_001123395.1:c.*778T>A | NP_001116867.1:n.*778T>A | |
| NM_001185117.1:c.*672T>A | NP_001172046.1:n.*672T>A | |
| NM_148960.2:c.671T>A | NP_683763.2:p.Val224Glu | |
| NM_001123395.2:c.*778T>A | NP_001116867.1:n.*778T>A | |
| NM_148960.3:c.671T>A MANE Select | NP_683763.2:p.Val224Glu | |
| NM_001185117.2:c.*672T>A | NP_001172046.1:n.*672T>A |