Linked Data
ClinVar Variation Id:
433327
ClinVar RCV Id:
RCV000499284
dbSNP Id:
rs281865557
ExAC:
16:16253339 C / A
gnomAD v2:
16-16253339-C-A
gnomAD v4:
16-16159482-C-A
PubMed:
PMID:16086317
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16159482C>A , CM000678.2:g.16159482C>A | GRCh38 |
| NC_000016.9:g.16253339C>A , CM000678.1:g.16253339C>A | GRCh37 |
| NC_000016.8:g.16160840C>A | NCBI36 |
| NG_007558.2:g.68990G>T | |
| NG_007558.3:g.69136G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622290.5:c.3735G>T | ENSP00000483331.2:p.Glu1245Asp | |
| ENST00000205557.12:c.3735G>T MANE Select | ENSP00000205557.7:p.Glu1245Asp | |
| ENST00000640696.1:c.549G>T | ENSP00000492197.1:p.Glu183Asp | |
| ENST00000205557.11:c.3735G>T | ENSP00000205557.7:p.Glu1245Asp | |
| ENST00000456970.6:c.3360G>T | ENSP00000405002.2:n.3360G>T | |
| ENST00000622290.4:c.*944G>T | ENSP00000483331.1:n.*944G>T | |
| NM_001171.5:c.3735G>T | NP_001162.4:p.Glu1245Asp | |
| XM_011522479.1:c.3702G>T | XP_011520781.1:p.Glu1234Asp | |
| XM_011522480.1:c.3393G>T | XP_011520782.1:p.Glu1131Asp | |
| XM_011522481.1:c.3393G>T | XP_011520783.1:p.Glu1131Asp | |
| XR_932836.1:n.3970G>T | ||
| XR_932837.1:n.3771G>T | ||
| XR_932838.1:n.3771G>T | ||
| XR_933134.1:n.539-299C>A | ||
| NM_001351800.1:c.3393G>T | NP_001338729.1:p.Glu1131Asp | |
| NR_147784.1:n.3397G>T | ||
| XM_011522479.2:c.3702G>T | XP_011520781.1:p.Glu1234Asp | |
| XM_011522481.3:c.3393G>T | XP_011520783.1:p.Glu1131Asp | |
| XM_017023212.1:c.3567G>T | XP_016878701.1:p.Glu1189Asp | |
| XM_024450261.1:c.3771G>T | XP_024306029.1:p.Glu1257Asp | |
| XR_932836.2:n.3916G>T | ||
| XR_932837.3:n.3716G>T | ||
| XR_932838.3:n.3716G>T | ||
| NM_001171.6:c.3735G>T MANE Select | NP_001162.5:p.Glu1245Asp |