Linked Data
ClinVar Variation Id:
1934070
ClinVar RCV Id:
RCV002631658
dbSNP Id:
rs575521072
ExAC:
16:16263702 G / A
gnomAD v2:
16-16263702-G-A
gnomAD v3:
16-16169845-G-A
gnomAD v4:
16-16169845-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16169845G>A , CM000678.2:g.16169845G>A | GRCh38 |
| NC_000016.9:g.16263702G>A , CM000678.1:g.16263702G>A | GRCh37 |
| NC_000016.8:g.16171203G>A | NCBI36 |
| NG_007558.2:g.58627C>T | |
| NG_007558.3:g.58773C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622290.5:c.2796C>T | ENSP00000483331.2:p.Ala932= | |
| ENST00000205557.12:c.2796C>T MANE Select | ENSP00000205557.7:p.Ala932= | |
| ENST00000205557.11:c.2796C>T | ENSP00000205557.7:p.Ala932= | |
| ENST00000456970.6:c.2621C>T | ENSP00000405002.2:n.2621C>T | |
| ENST00000622290.4:c.*5C>T | ENSP00000483331.1:n.*5C>T | |
| NM_001171.5:c.2796C>T | NP_001162.4:p.Ala932= | |
| XM_011522479.1:c.2763C>T | XP_011520781.1:p.Ala921= | |
| XM_011522480.1:c.2454C>T | XP_011520782.1:p.Ala818= | |
| XM_011522481.1:c.2454C>T | XP_011520783.1:p.Ala818= | |
| XR_932836.1:n.3031C>T | ||
| XR_932837.1:n.3032C>T | ||
| XR_932838.1:n.3032C>T | ||
| NM_001351800.1:c.2454C>T | NP_001338729.1:p.Ala818= | |
| NR_147784.1:n.2658C>T | ||
| XM_011522479.2:c.2763C>T | XP_011520781.1:p.Ala921= | |
| XM_011522481.3:c.2454C>T | XP_011520783.1:p.Ala818= | |
| XM_017023212.1:c.2628C>T | XP_016878701.1:p.Ala876= | |
| XM_017023214.1:c.2796C>T | XP_016878703.1:p.Ala932= | |
| XM_024450261.1:c.2832C>T | XP_024306029.1:p.Ala944= | |
| XR_932836.2:n.2977C>T | ||
| XR_932837.3:n.2977C>T | ||
| XR_932838.3:n.2977C>T | ||
| NM_001171.6:c.2796C>T MANE Select | NP_001162.5:p.Ala932= |