Linked Data
ClinVar Variation Id:
254276
dbSNP Id:
rs200699377
ExAC:
9:27062615 G / T
gnomAD v2:
9-27062615-G-T
gnomAD v3:
9-27062617-G-T
gnomAD v4:
9-27062617-G-T
PubMed:
PMID:27486776
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.27062617G>T , CM000671.2:g.27062617G>T | GRCh38 |
| NC_000009.11:g.27062615G>T , CM000671.1:g.27062615G>T | GRCh37 |
| NC_000009.10:g.27052615G>T | NCBI36 |
| NG_053083.1:g.120628G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380062.10:c.1685-1G>T MANE Select | ENSP00000369402.5:n.1685-1G>T | |
| ENST00000648373.1:c.*1137-1G>T | ENSP00000497616.1:n.*1137-1G>T | |
| ENST00000380062.9:c.1685-1G>T | ENSP00000369402.5:n.1685-1G>T | |
| ENST00000433700.5:c.1685-1G>T | ENSP00000389224.1:n.1685-1G>T | |
| ENST00000443698.5:c.1685-1G>T | ENSP00000404122.1:n.1685-1G>T | |
| NM_001099222.1:c.1685-1G>T | NP_001092692.1:n.1685-1G>T | |
| NM_001099223.1:c.1685-1G>T | NP_001092693.1:n.1685-1G>T | |
| NM_025103.2:c.1685-1G>T | NP_079379.2:n.1685-1G>T | |
| XM_011518036.1:c.1022-1G>T | XP_011516338.1:n.1022-1G>T | |
| NM_001099222.2:c.1685-1G>T | NP_001092692.1:n.1685-1G>T | |
| NM_001099223.2:c.1685-1G>T | NP_001092693.1:n.1685-1G>T | |
| NM_001349928.1:c.*620G>T | NP_001336857.1:n.*620G>T | |
| NM_025103.3:c.1685-1G>T | NP_079379.2:n.1685-1G>T | |
| XM_011518036.2:c.1022-1G>T | XP_011516338.1:n.1022-1G>T | |
| XM_017015163.1:c.1022-1G>T | XP_016870652.1:n.1022-1G>T | |
| XM_017015164.1:c.*620G>T | XP_016870653.1:n.*620G>T | |
| NM_001349928.2:c.*620G>T | NP_001336857.1:n.*620G>T | |
| NM_025103.4:c.1685-1G>T MANE Select | NP_079379.2:n.1685-1G>T | |
| NM_001099222.3:c.1685-1G>T | NP_001092692.1:n.1685-1G>T | |
| NM_001099223.3:c.1685-1G>T | NP_001092693.1:n.1685-1G>T |