Linked Data
ClinVar Variation Id:
97866
dbSNP Id:
rs104895452
ExAC:
16:50756571 C / A
gnomAD v2:
16-50756571-C-A
gnomAD v3:
16-50722660-C-A
gnomAD v4:
16-50722660-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.50722660C>A , CM000678.2:g.50722660C>A | GRCh38 |
| NC_000016.9:g.50756571C>A , CM000678.1:g.50756571C>A | GRCh37 |
| NC_000016.8:g.49314072C>A | NCBI36 |
| NG_007508.1:g.30522C>A , LRG_177:g.30522C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000641284.2:c.2382-7158C>A | ENSP00000493088.1:n.2382-7158C>A | |
| ENST00000646677.2:c.*437C>A | ENSP00000496533.1:n.*437C>A | |
| ENST00000697425.1:c.499C>A | ||
| ENST00000697426.1:c.387C>A | ||
| ENST00000697427.1:c.303C>A | ||
| ENST00000697428.1:n.2150C>A | ||
| ENST00000641284.1:c.2382-7158C>A | ENSP00000493088.1:n.2382-7158C>A | |
| ENST00000646677.1:c.*437C>A | ENSP00000496533.1:n.*437C>A | |
| ENST00000647318.2:c.2672C>A MANE Select | ENSP00000495993.1:p.Ala891Asp | |
| ENST00000300589.6:c.2753C>A | ENSP00000300589.2:p.Ala918Asp | |
| ENST00000524712.5:c.247C>A | ||
| ENST00000527052.5:c.219C>A | ||
| ENST00000529633.5:c.331C>A | ||
| ENST00000534057.1:c.387C>A | ||
| ENST00000534067.5:c.483C>A | ||
| NM_001293557.1:c.2672C>A | NP_001280486.1:p.Ala891Asp | |
| NM_022162.2:c.2753C>A | NP_071445.1:p.Ala918Asp | |
| XM_005256084.2:c.2672C>A | XP_005256141.1:p.Ala891Asp | |
| XM_006721242.2:c.2588C>A | XP_006721305.1:p.Ala863Asp | |
| XM_011523257.1:c.2249C>A | XP_011521559.1:p.Ala750Asp | |
| XM_011523258.1:c.2249C>A | XP_011521560.1:p.Ala750Asp | |
| XM_011523259.1:c.2087C>A | XP_011521561.1:p.Ala696Asp | |
| XR_429725.2:n.2594C>A | ||
| XR_429726.2:n.2510C>A | ||
| XR_933387.1:n.2790C>A | ||
| XM_005256084.4:c.2672C>A | XP_005256141.1:p.Ala891Asp | |
| XM_006721242.4:c.2588C>A | XP_006721305.1:p.Ala863Asp | |
| XM_011523259.2:c.2087C>A | XP_011521561.1:p.Ala696Asp | |
| XM_017023535.1:c.2180C>A | XP_016879024.1:p.Ala727Asp | |
| XM_017023536.1:c.2087C>A | XP_016879025.1:p.Ala696Asp | |
| XM_017023537.1:c.2087C>A | XP_016879026.1:p.Ala696Asp | |
| XM_017023538.1:c.2087C>A | XP_016879027.1:p.Ala696Asp | |
| XR_429725.3:n.2547C>A | ||
| XR_429726.3:n.2463C>A | ||
| XR_933387.2:n.2743C>A | ||
| NM_001293557.2:c.2672C>A | NP_001280486.1:p.Ala891Asp | |
| NM_001370466.1:c.2672C>A MANE Select | NP_001357395.1:p.Ala891Asp | |
| NM_022162.3:c.2753C>A | NP_071445.1:p.Ala918Asp | |
| NR_163434.1:n.2884C>A |