Linked Data
ClinVar Variation Id:
364387
dbSNP Id:
rs769533549
ExAC:
9:107555055 G / A
gnomAD v2:
9-107555055-G-A
gnomAD v3:
9-104792774-G-A
gnomAD v4:
9-104792774-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.104792774G>A , CM000671.2:g.104792774G>A | GRCh38 |
| NC_000009.11:g.107555055G>A , CM000671.1:g.107555055G>A | GRCh37 |
| NC_000009.10:g.106594876G>A | NCBI36 |
| NG_007981.1:g.140382C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374736.8:c.5757+12C>T MANE Select | ENSP00000363868.3:n.5757+12C>T | |
| ENST00000678995.1:c.5763+12C>T | ENSP00000504612.1:n.5763+12C>T | |
| ENST00000374736.7:c.5757+12C>T | ENSP00000363868.3:n.5757+12C>T | |
| NM_005502.3:c.5757+12C>T | NP_005493.2:n.5757+12C>T | |
| XM_005251773.1:c.5763+12C>T | XP_005251830.1:n.5763+12C>T | |
| XM_005251776.1:c.5583+12C>T | XP_005251833.1:n.5583+12C>T | |
| XM_011518339.1:c.5838+12C>T | XP_011516641.1:n.5838+12C>T | |
| XM_011518340.1:c.5838+12C>T | XP_011516642.1:n.5838+12C>T | |
| XM_011518341.1:c.5832+12C>T | XP_011516643.1:n.5832+12C>T | |
| XM_011518342.1:c.5400+12C>T | XP_011516644.1:n.5400+12C>T | |
| XM_011518343.1:c.5838+12C>T | XP_011516645.1:n.5838+12C>T | |
| XM_005251773.3:c.5763+12C>T | XP_005251830.1:n.5763+12C>T | |
| XM_005251776.3:c.5583+12C>T | XP_005251833.1:n.5583+12C>T | |
| XM_011518339.3:c.5838+12C>T | XP_011516641.1:n.5838+12C>T | |
| XM_011518340.3:c.5838+12C>T | XP_011516642.1:n.5838+12C>T | |
| XM_011518341.3:c.5832+12C>T | XP_011516643.1:n.5832+12C>T | |
| XM_011518342.3:c.5400+12C>T | XP_011516644.1:n.5400+12C>T | |
| XM_017014378.2:c.5838+12C>T | XP_016869867.1:n.5838+12C>T | |
| XM_017014379.2:c.5838+12C>T | XP_016869868.1:n.5838+12C>T | |
| XM_017014380.2:c.5838+12C>T | XP_016869869.1:n.5838+12C>T | |
| XM_017014381.2:c.5838+12C>T | XP_016869870.1:n.5838+12C>T | |
| XM_017014382.2:c.5700+12C>T | XP_016869871.1:n.5700+12C>T | |
| XR_001746223.1:n.6151+12C>T | ||
| NM_005502.4:c.5757+12C>T MANE Select | NP_005493.2:n.5757+12C>T |