Linked Data
ClinVar Variation Id:
1744604
ClinVar RCV Id:
RCV002342957
dbSNP Id:
rs764504753
ExAC:
9:107560832 G / A
gnomAD v2:
9-107560832-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.104798551G>A , CM000671.2:g.104798551G>A | GRCh38 |
| NC_000009.11:g.107560832G>A , CM000671.1:g.107560832G>A | GRCh37 |
| NC_000009.10:g.106600653G>A | NCBI36 |
| NG_007981.1:g.134605C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374736.8:c.4991C>T MANE Select | ENSP00000363868.3:p.Ala1664Val | |
| ENST00000678995.1:c.4997C>T | ENSP00000504612.1:p.Ala1666Val | |
| ENST00000374736.7:c.4991C>T | ENSP00000363868.3:p.Ala1664Val | |
| NM_005502.3:c.4991C>T | NP_005493.2:p.Ala1664Val | |
| XM_005251773.1:c.4997C>T | XP_005251830.1:p.Ala1666Val | |
| XM_005251776.1:c.4817C>T | XP_005251833.1:p.Ala1606Val | |
| XM_011518339.1:c.5072C>T | XP_011516641.1:p.Ala1691Val | |
| XM_011518340.1:c.5072C>T | XP_011516642.1:p.Ala1691Val | |
| XM_011518341.1:c.5066C>T | XP_011516643.1:p.Ala1689Val | |
| XM_011518342.1:c.4634C>T | XP_011516644.1:p.Ala1545Val | |
| XM_011518343.1:c.5072C>T | XP_011516645.1:p.Ala1691Val | |
| XM_005251773.3:c.4997C>T | XP_005251830.1:p.Ala1666Val | |
| XM_005251776.3:c.4817C>T | XP_005251833.1:p.Ala1606Val | |
| XM_011518339.3:c.5072C>T | XP_011516641.1:p.Ala1691Val | |
| XM_011518340.3:c.5072C>T | XP_011516642.1:p.Ala1691Val | |
| XM_011518341.3:c.5066C>T | XP_011516643.1:p.Ala1689Val | |
| XM_011518342.3:c.4634C>T | XP_011516644.1:p.Ala1545Val | |
| XM_017014378.2:c.5072C>T | XP_016869867.1:p.Ala1691Val | |
| XM_017014379.2:c.5072C>T | XP_016869868.1:p.Ala1691Val | |
| XM_017014380.2:c.5072C>T | XP_016869869.1:p.Ala1691Val | |
| XM_017014381.2:c.5072C>T | XP_016869870.1:p.Ala1691Val | |
| XM_017014382.2:c.4934C>T | XP_016869871.1:p.Ala1645Val | |
| XR_001746223.1:n.5385C>T | ||
| NM_005502.4:c.4991C>T MANE Select | NP_005493.2:p.Ala1664Val |