Linked Data
ClinVar Variation Id:
65505
dbSNP Id:
rs78018362
ExAC:
2:45169333 G / T
gnomAD v2:
2-45169333-G-T
gnomAD v3:
2-44942194-G-T
gnomAD v4:
2-44942194-G-T
PubMed:
PMID:20301702
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.44942194G>T , CM000664.2:g.44942194G>T | GRCh38 |
| NC_000002.11:g.45169333G>T , CM000664.1:g.45169333G>T | GRCh37 |
| NC_000002.10:g.45022837G>T | NCBI36 |
| NG_016222.1:g.5297G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260653.5:c.90G>T MANE Select | ENSP00000260653.3:p.Ala30= | |
| ENST00000260653.4:c.90G>T | ENSP00000260653.3:p.Ala30= | |
| NM_005413.3:c.90G>T | NP_005404.1:p.Ala30= | |
| XM_011533042.1:c.90G>T | XP_011531344.1:p.Ala30= | |
| NM_005413.4:c.90G>T MANE Select | NP_005404.1:p.Ala30= |