Linked Data
ClinVar Variation Id:
216926
dbSNP Id:
rs137852247
gnomAD v4:
X-139560852-G-A
COSMIC:
COSM1115965
PubMed:
PMID:25326637
ERepo:
CA277507/MONDO:0010604/080
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.139560852G>A , CM000685.2:g.139560852G>A | GRCh38 |
| NC_000023.10:g.138643011G>A , CM000685.1:g.138643011G>A | GRCh37 |
| NC_000023.9:g.138470677G>A | NCBI36 |
| NG_007994.1:g.35117G>A , LRG_556:g.35117G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218099.7:c.835G>A MANE Select | ENSP00000218099.2:p.Ala279Thr | |
| ENST00000643157.1:n.1502G>A | ||
| ENST00000218099.6:c.835G>A | ENSP00000218099.2:p.Ala279Thr | |
| ENST00000394090.2:c.721G>A | ENSP00000377650.2:p.Ala241Thr | |
| NM_000133.3:c.835G>A , LRG_556t1:c.835G>A | NP_000124.1:p.Ala279Thr | |
| NM_001313913.1:c.721G>A | NP_001300842.1:p.Ala241Thr | |
| XM_005262397.3:c.706G>A | XP_005262454.1:p.Ala236Thr | |
| XM_005262397.4:c.706G>A | XP_005262454.1:p.Ala236Thr | |
| NM_000133.4:c.835G>A MANE Select | NP_000124.1:p.Ala279Thr | |
| NM_001313913.2:c.721G>A | NP_001300842.1:p.Ala241Thr |