Linked Data
ClinVar Variation Id:
439
dbSNP Id:
rs1135062
ExAC:
19:45322744 A / G
gnomAD v2:
19-45322744-A-G
gnomAD v3:
19-44819487-A-G
gnomAD v4:
19-44819487-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44819487A>G , CM000681.2:g.44819487A>G | GRCh38 |
| NC_000019.9:g.45322744A>G , CM000681.1:g.45322744A>G | GRCh37 |
| NC_000019.8:g.50014584A>G | NCBI36 |
| NG_007480.1:g.15407A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000270233.12:c.1615A>G MANE Select | ENSP00000270233.5:p.Thr539Ala | |
| ENST00000611077.5:c.1615A>G | ENSP00000481153.1:p.Thr539Ala | |
| ENST00000270233.10:c.1615A>G | ENSP00000270233.5:p.Thr539Ala | |
| ENST00000588714.1:n.241A>G | ||
| ENST00000589651.5:c.1615A>G | ENSP00000476710.1:p.Thr539Ala | |
| ENST00000611077.4:c.1615A>G | ENSP00000481153.1:p.Thr539Ala | |
| NM_001013257.2:c.1615A>G | NP_001013275.1:p.Thr539Ala | |
| NM_005581.4:c.1615A>G | NP_005572.2:p.Thr539Ala | |
| NM_005581.5:c.1615A>G MANE Select | NP_005572.2:p.Thr539Ala |