Linked Data
ClinVar Variation Id:
487087
dbSNP Id:
rs121917881
ExAC:
2:45169449 G / A
gnomAD v2:
2-45169449-G-A
gnomAD v3:
2-44942310-G-A
gnomAD v4:
2-44942310-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.44942310G>A , CM000664.2:g.44942310G>A | GRCh38 |
| NC_000002.11:g.45169449G>A , CM000664.1:g.45169449G>A | GRCh37 |
| NC_000002.10:g.45022953G>A | NCBI36 |
| NG_016222.1:g.5413G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260653.5:c.206G>A MANE Select | ENSP00000260653.3:p.Gly69Asp | |
| ENST00000260653.4:c.206G>A | ENSP00000260653.3:p.Gly69Asp | |
| NM_005413.3:c.206G>A | NP_005404.1:p.Gly69Asp | |
| XM_011533042.1:c.206G>A | XP_011531344.1:p.Gly69Asp | |
| NM_005413.4:c.206G>A MANE Select | NP_005404.1:p.Gly69Asp |