Linked Data
ClinVar Variation Id:
1717507
ClinVar RCV Id:
RCV002296409
dbSNP Id:
rs888236394
gnomAD v3:
9-104831722-T-G
gnomAD v4:
9-104831722-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.104831722T>G , CM000671.2:g.104831722T>G | GRCh38 |
| NC_000009.11:g.107594003T>G , CM000671.1:g.107594003T>G | GRCh37 |
| NC_000009.10:g.106633824T>G | NCBI36 |
| NG_007981.1:g.101434A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374736.8:c.1615A>C MANE Select | ENSP00000363868.3:p.Thr539Pro | |
| ENST00000678995.1:c.1615A>C | ENSP00000504612.1:p.Thr539Pro | |
| ENST00000374736.7:c.1615A>C | ENSP00000363868.3:p.Thr539Pro | |
| NM_005502.3:c.1615A>C | NP_005493.2:p.Thr539Pro | |
| XM_005251773.1:c.1615A>C | XP_005251830.1:p.Thr539Pro | |
| XM_005251776.1:c.1435A>C | XP_005251833.1:p.Thr479Pro | |
| XM_011518339.1:c.1690A>C | XP_011516641.1:p.Thr564Pro | |
| XM_011518340.1:c.1690A>C | XP_011516642.1:p.Thr564Pro | |
| XM_011518341.1:c.1690A>C | XP_011516643.1:p.Thr564Pro | |
| XM_011518342.1:c.1252A>C | XP_011516644.1:p.Thr418Pro | |
| XM_011518343.1:c.1690A>C | XP_011516645.1:p.Thr564Pro | |
| XM_011518344.1:c.1690A>C | XP_011516646.1:p.Thr564Pro | |
| XM_005251773.3:c.1615A>C | XP_005251830.1:p.Thr539Pro | |
| XM_005251776.3:c.1435A>C | XP_005251833.1:p.Thr479Pro | |
| XM_011518339.3:c.1690A>C | XP_011516641.1:p.Thr564Pro | |
| XM_011518340.3:c.1690A>C | XP_011516642.1:p.Thr564Pro | |
| XM_011518341.3:c.1690A>C | XP_011516643.1:p.Thr564Pro | |
| XM_011518342.3:c.1252A>C | XP_011516644.1:p.Thr418Pro | |
| XM_011518344.2:c.1690A>C | XP_011516646.1:p.Thr564Pro | |
| XM_017014378.2:c.1690A>C | XP_016869867.1:p.Thr564Pro | |
| XM_017014379.2:c.1690A>C | XP_016869868.1:p.Thr564Pro | |
| XM_017014380.2:c.1690A>C | XP_016869869.1:p.Thr564Pro | |
| XM_017014381.2:c.1690A>C | XP_016869870.1:p.Thr564Pro | |
| XM_017014382.2:c.1552A>C | XP_016869871.1:p.Thr518Pro | |
| XR_001746223.1:n.2003A>C | ||
| NM_005502.4:c.1615A>C MANE Select | NP_005493.2:p.Thr539Pro |