Linked Data
ClinVar Variation Id:
2383151
ClinVar RCV Id:
RCV004223690
dbSNP Id:
rs549357298
ExAC:
7:44578870 T / A
gnomAD v2:
7-44578870-T-A
gnomAD v3:
7-44539271-T-A
gnomAD v4:
7-44539271-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44539271T>A , CM000669.2:g.44539271T>A | GRCh38 |
| NC_000007.13:g.44578870T>A , CM000669.1:g.44578870T>A | GRCh37 |
| NC_000007.12:g.44545395T>A | NCBI36 |
| NG_013088.1:g.7045A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381160.8:c.1126A>T MANE Select | ENSP00000370552.3:p.Thr376Ser | |
| ENST00000289547.8:c.1126A>T | ENSP00000289547.4:p.Thr376Ser | |
| ENST00000381160.7:c.1126A>T | ENSP00000370552.3:p.Thr376Ser | |
| ENST00000423141.1:c.1126A>T | ENSP00000404670.1:p.Thr376Ser | |
| ENST00000546276.5:c.1126A>T | ENSP00000438033.1:p.Thr376Ser | |
| NM_001101648.1:c.1126A>T | NP_001095118.1:p.Thr376Ser | |
| NM_001300967.1:c.1126A>T | NP_001287896.1:p.Thr376Ser | |
| NM_013389.2:c.1126A>T | NP_037521.2:p.Thr376Ser | |
| XM_011515326.1:c.1126A>T | XP_011513628.1:p.Thr376Ser | |
| XM_011515327.1:c.1126A>T | XP_011513629.1:p.Thr376Ser | |
| XM_011515326.3:c.1126A>T | XP_011513628.1:p.Thr376Ser | |
| XM_011515328.2:c.-242A>T | XP_011513630.1:n.-242A>T | |
| XR_002956423.1:n.1518A>T | ||
| NM_001101648.2:c.1126A>T MANE Select | NP_001095118.1:p.Thr376Ser | |
| NM_001300967.2:c.1126A>T | NP_001287896.1:p.Thr376Ser | |
| NM_013389.3:c.1126A>T | NP_037521.2:p.Thr376Ser |