Linked Data
ClinVar Variation Id:
492242
dbSNP Id:
rs760981278
ExAC:
1:55529201 G / A
gnomAD v2:
1-55529201-G-A
gnomAD v3:
1-55063528-G-A
gnomAD v4:
1-55063528-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55063528G>A , CM000663.2:g.55063528G>A | GRCh38 |
| NC_000001.10:g.55529201G>A , CM000663.1:g.55529201G>A | GRCh37 |
| NC_000001.9:g.55301789G>A | NCBI36 |
| NG_009061.1:g.28982G>A , LRG_275:g.28982G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.*363G>A | ENSP00000501161.2:n.*363G>A | |
| ENST00000710286.1:c.2380G>A | ENSP00000518176.1:p.Val794Ile | |
| ENST00000673903.1:c.1648G>A | ENSP00000501257.1:p.Val550Ile | |
| ENST00000673913.1:c.873G>A | ENSP00000501161.1:n.873G>A | |
| ENST00000302118.5:c.2023G>A MANE Select | ENSP00000303208.5:p.Val675Ile | |
| ENST00000490692.1:n.2569G>A | ||
| NM_174936.3:c.2023G>A , LRG_275t1:c.2023G>A | NP_777596.2:p.Val675Ile | |
| NR_110451.1:n.1630G>A | ||
| XM_011541193.1:c.1144G>A | XP_011539495.1:p.Val382Ile | |
| NM_174936.4:c.2023G>A MANE Select | NP_777596.2:p.Val675Ile | |
| NR_110451.2:n.1630G>A |