Linked Data
ClinVar Variation Id:
364463
dbSNP Id:
rs200532064
ExAC:
9:107646693 T / A
gnomAD v2:
9-107646693-T-A
gnomAD v3:
9-104884412-T-A
gnomAD v4:
9-104884412-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.104884412T>A , CM000671.2:g.104884412T>A | GRCh38 |
| NC_000009.11:g.107646693T>A , CM000671.1:g.107646693T>A | GRCh37 |
| NC_000009.10:g.106686514T>A | NCBI36 |
| NG_007981.1:g.48744A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374736.8:c.302+15A>T MANE Select | ENSP00000363868.3:n.302+15A>T | |
| ENST00000678995.1:c.302+15A>T | ENSP00000504612.1:n.302+15A>T | |
| ENST00000374733.1:c.122+15A>T | ENSP00000363865.1:n.122+15A>T | |
| ENST00000374736.7:c.302+15A>T | ENSP00000363868.3:n.302+15A>T | |
| ENST00000423487.6:c.302+15A>T | ENSP00000416623.2:n.302+15A>T | |
| NM_005502.3:c.302+15A>T | NP_005493.2:n.302+15A>T | |
| XM_005251773.1:c.302+15A>T | XP_005251830.1:n.302+15A>T | |
| XM_005251776.1:c.122+15A>T | XP_005251833.1:n.122+15A>T | |
| XM_011518339.1:c.377+15A>T | XP_011516641.1:n.377+15A>T | |
| XM_011518340.1:c.377+15A>T | XP_011516642.1:n.377+15A>T | |
| XM_011518341.1:c.377+15A>T | XP_011516643.1:n.377+15A>T | |
| XM_011518342.1:c.-61-1255A>T | XP_011516644.1:n.-61-1255A>T | |
| XM_011518343.1:c.377+15A>T | XP_011516645.1:n.377+15A>T | |
| XM_011518344.1:c.377+15A>T | XP_011516646.1:n.377+15A>T | |
| XM_005251773.3:c.302+15A>T | XP_005251830.1:n.302+15A>T | |
| XM_005251776.3:c.122+15A>T | XP_005251833.1:n.122+15A>T | |
| XM_011518339.3:c.377+15A>T | XP_011516641.1:n.377+15A>T | |
| XM_011518340.3:c.377+15A>T | XP_011516642.1:n.377+15A>T | |
| XM_011518341.3:c.377+15A>T | XP_011516643.1:n.377+15A>T | |
| XM_011518342.3:c.-61-1255A>T | XP_011516644.1:n.-61-1255A>T | |
| XM_011518344.2:c.377+15A>T | XP_011516646.1:n.377+15A>T | |
| XM_017014378.2:c.377+15A>T | XP_016869867.1:n.377+15A>T | |
| XM_017014379.2:c.377+15A>T | XP_016869868.1:n.377+15A>T | |
| XM_017014380.2:c.377+15A>T | XP_016869869.1:n.377+15A>T | |
| XM_017014381.2:c.377+15A>T | XP_016869870.1:n.377+15A>T | |
| XM_017014382.2:c.239+15A>T | XP_016869871.1:n.239+15A>T | |
| XR_001746223.1:n.690+15A>T | ||
| NM_005502.4:c.302+15A>T MANE Select | NP_005493.2:n.302+15A>T |