Linked Data
ClinVar Variation Id:
500679
dbSNP Id:
rs150757295
ExAC:
X:153608357 C / T
gnomAD v2:
X-153608357-C-T
gnomAD v3:
X-154379997-C-T
gnomAD v4:
X-154379997-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154379997C>T , CM000685.2:g.154379997C>T | GRCh38 |
| NC_000023.10:g.153608357C>T , CM000685.1:g.153608357C>T | GRCh37 |
| NC_000023.9:g.153261551C>T | NCBI36 |
| NG_008677.1:g.10562C>T , LRG_745:g.10562C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682114.1:c.243C>T | ENSP00000507245.1:p.Asp81= | |
| ENST00000682478.1:n.219C>T | ||
| ENST00000683576.1:n.219C>T | ||
| ENST00000683627.1:c.243C>T | ENSP00000507533.1:p.Asp81= | |
| ENST00000684082.1:c.243C>T | ENSP00000508266.1:p.Asp81= | |
| ENST00000684633.1:n.215C>T | ||
| ENST00000684678.1:c.239C>T | ENSP00000507059.1:n.239C>T | |
| ENST00000369842.9:c.243C>T MANE Select | ENSP00000358857.4:p.Asp81= | |
| ENST00000369835.3:c.138C>T | ENSP00000358850.3:p.Asp46= | |
| ENST00000369842.8:c.243C>T | ENSP00000358857.4:p.Asp81= | |
| ENST00000428228.5:c.*148C>T | ENSP00000401081.1:n.*148C>T | |
| ENST00000468294.5:n.203C>T | ||
| ENST00000485261.1:n.219C>T | ||
| ENST00000486738.5:n.387C>T | ||
| ENST00000492448.1:n.226C>T | ||
| ENST00000494443.5:n.300C>T | ||
| NM_000117.2:c.243C>T , LRG_745t1:c.243C>T | NP_000108.1:p.Asp81= | |
| XM_024452349.1:c.35C>T | XP_024308117.1:p.Thr12Met | |
| NM_000117.3:c.243C>T MANE Select | NP_000108.1:p.Asp81= |