Linked Data
ClinVar Variation Id:
319472
dbSNP Id:
rs142559533
ExAC:
16:50753917 G / A
gnomAD v2:
16-50753917-G-A
gnomAD v3:
16-50720006-G-A
gnomAD v4:
16-50720006-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.50720006G>A , CM000678.2:g.50720006G>A | GRCh38 |
| NC_000016.9:g.50753917G>A , CM000678.1:g.50753917G>A | GRCh37 |
| NC_000016.8:g.49311418G>A | NCBI36 |
| NG_007508.1:g.27868G>A , LRG_177:g.27868G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000641284.2:c.2381+7633G>A | ENSP00000493088.1:n.2381+7633G>A | |
| ENST00000646677.2:c.*396G>A | ENSP00000496533.1:n.*396G>A | |
| ENST00000697425.1:c.458G>A | ||
| ENST00000697426.1:c.349-2616G>A | ||
| ENST00000697427.1:c.262G>A | ||
| ENST00000697428.1:n.2109G>A | ||
| ENST00000641284.1:c.2381+7633G>A | ENSP00000493088.1:n.2381+7633G>A | |
| ENST00000646677.1:c.*396G>A | ENSP00000496533.1:n.*396G>A | |
| ENST00000647318.2:c.2631G>A MANE Select | ENSP00000495993.1:p.Leu877= | |
| ENST00000300589.6:c.2712G>A | ENSP00000300589.2:p.Leu904= | |
| ENST00000524712.5:c.209-2616G>A | ||
| ENST00000527052.5:c.181-2616G>A | ||
| ENST00000529633.5:c.290G>A | ||
| ENST00000534057.1:c.346G>A | ||
| ENST00000534067.5:c.445-2616G>A | ||
| NM_001293557.1:c.2631G>A | NP_001280486.1:p.Leu877= | |
| NM_022162.2:c.2712G>A | NP_071445.1:p.Leu904= | |
| XM_005256084.2:c.2631G>A | XP_005256141.1:p.Leu877= | |
| XM_006721242.2:c.2550-2616G>A | XP_006721305.1:n.2550-2616G>A | |
| XM_011523257.1:c.2208G>A | XP_011521559.1:p.Leu736= | |
| XM_011523258.1:c.2208G>A | XP_011521560.1:p.Leu736= | |
| XM_011523259.1:c.2046G>A | XP_011521561.1:p.Leu682= | |
| XR_429725.2:n.2553G>A | ||
| XR_429726.2:n.2472-2616G>A | ||
| XR_933387.1:n.2749G>A | ||
| XM_005256084.4:c.2631G>A | XP_005256141.1:p.Leu877= | |
| XM_006721242.4:c.2550-2616G>A | XP_006721305.1:n.2550-2616G>A | |
| XM_011523259.2:c.2046G>A | XP_011521561.1:p.Leu682= | |
| XM_017023535.1:c.2139G>A | XP_016879024.1:p.Leu713= | |
| XM_017023536.1:c.2046G>A | XP_016879025.1:p.Leu682= | |
| XM_017023537.1:c.2046G>A | XP_016879026.1:p.Leu682= | |
| XM_017023538.1:c.2046G>A | XP_016879027.1:p.Leu682= | |
| XR_429725.3:n.2506G>A | ||
| XR_429726.3:n.2425-2616G>A | ||
| XR_933387.2:n.2702G>A | ||
| NM_001293557.2:c.2631G>A | NP_001280486.1:p.Leu877= | |
| NM_001370466.1:c.2631G>A MANE Select | NP_001357395.1:p.Leu877= | |
| NM_022162.3:c.2712G>A | NP_071445.1:p.Leu904= | |
| NR_163434.1:n.2843G>A |