Linked Data
ClinVar Variation Id:
10607
dbSNP Id:
rs137852254
gnomAD v4:
X-139561710-C-T
COSMIC:
COSM4682262
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.139561710C>T , CM000685.2:g.139561710C>T | GRCh38 |
| NC_000023.10:g.138643869C>T , CM000685.1:g.138643869C>T | GRCh37 |
| NC_000023.9:g.138471535C>T | NCBI36 |
| NG_007994.1:g.35975C>T , LRG_556:g.35975C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218099.7:c.1025C>T MANE Select | ENSP00000218099.2:p.Thr342Met | |
| ENST00000643157.1:n.1692C>T | ||
| ENST00000218099.6:c.1025C>T | ENSP00000218099.2:p.Thr342Met | |
| ENST00000394090.2:c.911C>T | ENSP00000377650.2:p.Thr304Met | |
| NM_000133.3:c.1025C>T , LRG_556t1:c.1025C>T | NP_000124.1:p.Thr342Met | |
| NM_001313913.1:c.911C>T | NP_001300842.1:p.Thr304Met | |
| XM_005262397.3:c.896C>T | XP_005262454.1:p.Thr299Met | |
| XM_005262397.4:c.896C>T | XP_005262454.1:p.Thr299Met | |
| NM_000133.4:c.1025C>T MANE Select | NP_000124.1:p.Thr342Met | |
| NM_001313913.2:c.911C>T | NP_001300842.1:p.Thr304Met |