Linked Data
ClinVar Variation Id:
285047
dbSNP Id:
rs782367505
ExAC:
X:153609317 C / T
gnomAD v2:
X-153609317-C-T
gnomAD v3:
X-154380957-C-T
gnomAD v4:
X-154380957-C-T
COSMIC:
COSM3034221
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154380957C>T , CM000685.2:g.154380957C>T | GRCh38 |
| NC_000023.10:g.153609317C>T , CM000685.1:g.153609317C>T | GRCh37 |
| NC_000023.9:g.153262511C>T | NCBI36 |
| NG_008677.1:g.11522C>T , LRG_745:g.11522C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682114.1:c.525C>T | ENSP00000507245.1:p.Ser175= | |
| ENST00000682478.1:n.715C>T | ||
| ENST00000683576.1:n.715C>T | ||
| ENST00000683627.1:c.525C>T | ENSP00000507533.1:p.Ser175= | |
| ENST00000684082.1:c.482C>T | ENSP00000508266.1:n.482C>T | |
| ENST00000684633.1:n.497C>T | ||
| ENST00000684678.1:c.521C>T | ENSP00000507059.1:n.521C>T | |
| ENST00000369842.9:c.525C>T MANE Select | ENSP00000358857.4:p.Ser175= | |
| ENST00000369835.3:c.420C>T | ENSP00000358850.3:p.Ser140= | |
| ENST00000369842.8:c.525C>T | ENSP00000358857.4:p.Ser175= | |
| ENST00000428228.5:c.*430C>T | ENSP00000401081.1:n.*430C>T | |
| ENST00000471965.1:n.314C>T | ||
| ENST00000486738.5:n.962C>T | ||
| ENST00000492448.1:n.508C>T | ||
| NM_000117.2:c.525C>T , LRG_745t1:c.525C>T | NP_000108.1:p.Ser175= | |
| XM_024452349.1:c.531C>T | XP_024308117.1:p.Ser177= | |
| NM_000117.3:c.525C>T MANE Select | NP_000108.1:p.Ser175= |