Linked Data
ClinVar Variation Id:
319469
dbSNP Id:
rs5743285
ExAC:
16:50750791 G / T
gnomAD v2:
16-50750791-G-T
gnomAD v3:
16-50716880-G-T
gnomAD v4:
16-50716880-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.50716880G>T , CM000678.2:g.50716880G>T | GRCh38 |
| NC_000016.9:g.50750791G>T , CM000678.1:g.50750791G>T | GRCh37 |
| NC_000016.8:g.49308292G>T | NCBI36 |
| NG_007508.1:g.24742G>T , LRG_177:g.24742G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000641284.2:c.2381+4507G>T | ENSP00000493088.1:n.2381+4507G>T | |
| ENST00000646677.2:c.*231-11G>T | ENSP00000496533.1:n.*231-11G>T | |
| ENST00000697425.1:c.293-11G>T | ||
| ENST00000697426.1:c.265-11G>T | ||
| ENST00000697427.1:c.181-3045G>T | ||
| ENST00000697428.1:n.1944-11G>T | ||
| ENST00000641284.1:c.2381+4507G>T | ENSP00000493088.1:n.2381+4507G>T | |
| ENST00000646677.1:c.*231-11G>T | ENSP00000496533.1:n.*231-11G>T | |
| ENST00000647318.2:c.2466-11G>T MANE Select | ENSP00000495993.1:n.2466-11G>T | |
| ENST00000300589.6:c.2547-11G>T | ENSP00000300589.2:n.2547-11G>T | |
| ENST00000524712.5:c.208+4479G>T | ||
| ENST00000527052.5:c.180+4507G>T | ||
| ENST00000529633.5:c.209-3045G>T | ||
| ENST00000534057.1:c.264+210G>T | ||
| ENST00000534067.5:c.444+4243G>T | ||
| NM_001293557.1:c.2466-11G>T | NP_001280486.1:n.2466-11G>T | |
| NM_022162.2:c.2547-11G>T | NP_071445.1:n.2547-11G>T | |
| XM_005256084.2:c.2466-11G>T | XP_005256141.1:n.2466-11G>T | |
| XM_006721242.2:c.2466-11G>T | XP_006721305.1:n.2466-11G>T | |
| XM_011523257.1:c.2043-11G>T | XP_011521559.1:n.2043-11G>T | |
| XM_011523258.1:c.2043-11G>T | XP_011521560.1:n.2043-11G>T | |
| XM_011523259.1:c.1881-11G>T | XP_011521561.1:n.1881-11G>T | |
| XR_429725.2:n.2472-3045G>T | ||
| XR_429726.2:n.2471+4507G>T | ||
| XR_933387.1:n.2584-11G>T | ||
| XM_005256084.4:c.2466-11G>T | XP_005256141.1:n.2466-11G>T | |
| XM_006721242.4:c.2466-11G>T | XP_006721305.1:n.2466-11G>T | |
| XM_011523259.2:c.1881-11G>T | XP_011521561.1:n.1881-11G>T | |
| XM_017023535.1:c.1974-11G>T | XP_016879024.1:n.1974-11G>T | |
| XM_017023536.1:c.1881-11G>T | XP_016879025.1:n.1881-11G>T | |
| XM_017023537.1:c.1881-11G>T | XP_016879026.1:n.1881-11G>T | |
| XM_017023538.1:c.1881-11G>T | XP_016879027.1:n.1881-11G>T | |
| XR_429725.3:n.2425-3045G>T | ||
| XR_429726.3:n.2424+4507G>T | ||
| XR_933387.2:n.2537-11G>T | ||
| NM_001293557.2:c.2466-11G>T | NP_001280486.1:n.2466-11G>T | |
| NM_001370466.1:c.2466-11G>T MANE Select | NP_001357395.1:n.2466-11G>T | |
| NM_022162.3:c.2547-11G>T | NP_071445.1:n.2547-11G>T | |
| NR_163434.1:n.2678-11G>T |