Linked Data
ClinVar Variation Id:
680391
dbSNP Id:
rs782147479
ExAC:
X:153609251 C / T
gnomAD v2:
X-153609251-C-T
gnomAD v3:
X-154380891-C-T
gnomAD v4:
X-154380891-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154380891C>T , CM000685.2:g.154380891C>T | GRCh38 |
| NC_000023.10:g.153609251C>T , CM000685.1:g.153609251C>T | GRCh37 |
| NC_000023.9:g.153262445C>T | NCBI36 |
| NG_008677.1:g.11456C>T , LRG_745:g.11456C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682114.1:c.459C>T | ENSP00000507245.1:p.Pro153= | |
| ENST00000682478.1:n.649C>T | ||
| ENST00000683576.1:n.649C>T | ||
| ENST00000683627.1:c.459C>T | ENSP00000507533.1:p.Pro153= | |
| ENST00000684082.1:c.416C>T | ENSP00000508266.1:n.416C>T | |
| ENST00000684633.1:n.431C>T | ||
| ENST00000684678.1:c.455C>T | ENSP00000507059.1:n.455C>T | |
| ENST00000369842.9:c.459C>T MANE Select | ENSP00000358857.4:p.Pro153= | |
| ENST00000369835.3:c.354C>T | ENSP00000358850.3:p.Pro118= | |
| ENST00000369842.8:c.459C>T | ENSP00000358857.4:p.Pro153= | |
| ENST00000428228.5:c.*364C>T | ENSP00000401081.1:n.*364C>T | |
| ENST00000468294.5:n.498C>T | ||
| ENST00000471965.1:n.248C>T | ||
| ENST00000485261.1:n.728C>T | ||
| ENST00000486738.5:n.896C>T | ||
| ENST00000492448.1:n.442C>T | ||
| NM_000117.2:c.459C>T , LRG_745t1:c.459C>T | NP_000108.1:p.Pro153= | |
| XM_024452349.1:c.465C>T | XP_024308117.1:p.Pro155= | |
| NM_000117.3:c.459C>T MANE Select | NP_000108.1:p.Pro153= |