Linked Data
ClinVar Variation Id:
2626151
ClinVar RCV Id:
RCV003382131
dbSNP Id:
rs746014166
ExAC:
7:45077951 A / T
gnomAD v2:
7-45077951-A-T
gnomAD v3:
7-45038352-A-T
gnomAD v4:
7-45038352-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.45038352A>T , CM000669.2:g.45038352A>T | GRCh38 |
| NC_000007.13:g.45077951A>T , CM000669.1:g.45077951A>T | GRCh37 |
| NC_000007.12:g.45044476A>T | NCBI36 |
| NG_016295.1:g.43165A>T , LRG_664:g.43165A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258781.11:c.130A>T MANE Select | ENSP00000258781.7:p.Thr44Ser | |
| ENST00000648329.1:c.130A>T | ENSP00000496916.1:p.Thr44Ser | |
| ENST00000258781.10:c.130A>T | ENSP00000258781.6:p.Thr44Ser | |
| ENST00000381112.7:c.193A>T | ENSP00000370503.3:p.Thr65Ser | |
| ENST00000461377.5:n.483A>T | ||
| ENST00000472223.5:n.197A>T | ||
| ENST00000474617.1:c.112A>T | ENSP00000419474.1:p.Thr38Ser | |
| ENST00000475551.5:c.112A>T | ENSP00000417180.1:p.Thr38Ser | |
| ENST00000476594.1:n.92A>T | ||
| ENST00000478169.5:n.352A>T | ||
| ENST00000478582.5:n.341A>T | ||
| ENST00000480658.5:n.226A>T | ||
| ENST00000482714.5:n.126+10555A>T | ||
| ENST00000488727.5:c.130A>T | ENSP00000417251.1:p.Thr44Ser | |
| ENST00000492883.5:n.226A>T | ||
| ENST00000541586.5:c.31-25566A>T | ENSP00000444725.1:n.31-25566A>T | |
| ENST00000544363.5:c.130A>T | ENSP00000438035.1:p.Thr44Ser | |
| NM_001029835.2:c.193A>T , LRG_664t1:c.193A>T | NP_001025006.1:p.Thr65Ser | |
| NM_001167934.1:c.31-25566A>T | NP_001161406.1:n.31-25566A>T | |
| NM_001167935.1:c.130A>T | NP_001161407.1:p.Thr44Ser | |
| NM_031443.3:c.130A>T , LRG_664t2:c.130A>T | NP_113631.1:p.Thr44Ser | |
| NR_030770.1:n.212A>T | ||
| XM_006715785.2:c.93+10555A>T | XP_006715848.1:n.93+10555A>T | |
| XM_006715786.2:c.193A>T | XP_006715849.1:p.Thr65Ser | |
| XM_011515561.1:c.193A>T | XP_011513863.1:p.Thr65Ser | |
| XM_011515562.1:c.130A>T | XP_011513864.1:p.Thr44Ser | |
| XM_011515563.1:c.93+10555A>T | XP_011513865.1:n.93+10555A>T | |
| XM_011515564.1:c.31-25566A>T | XP_011513866.1:n.31-25566A>T | |
| XR_428088.2:n.206A>T | ||
| NM_001363458.1:c.130A>T | NP_001350387.1:p.Thr44Ser | |
| NM_001363459.1:c.31-25566A>T | NP_001350388.1:n.31-25566A>T | |
| XM_006715785.4:c.93+10555A>T | XP_006715848.1:n.93+10555A>T | |
| XM_006715786.3:c.193A>T | XP_006715849.1:p.Thr65Ser | |
| XM_011515561.2:c.193A>T | XP_011513863.1:p.Thr65Ser | |
| XM_011515563.3:c.93+10555A>T | XP_011513865.1:n.93+10555A>T | |
| XM_017012671.1:c.193A>T | XP_016868160.1:p.Thr65Ser | |
| XM_017012672.2:c.93+10555A>T | XP_016868161.1:n.93+10555A>T | |
| XM_017012673.1:c.31-25566A>T | XP_016868162.1:n.31-25566A>T | |
| XR_428088.3:n.226A>T | ||
| NM_001363458.2:c.130A>T | NP_001350387.1:p.Thr44Ser | |
| NM_001363459.2:c.31-25566A>T | NP_001350388.1:n.31-25566A>T | |
| NM_031443.4:c.130A>T MANE Select | NP_113631.1:p.Thr44Ser | |
| NR_030770.2:n.212A>T | ||
| NM_001167934.2:c.31-25566A>T | NP_001161406.1:n.31-25566A>T | |
| NM_001167935.2:c.130A>T | NP_001161407.1:p.Thr44Ser |