Linked Data
ClinVar Variation Id:
290626
dbSNP Id:
rs782011714
ExAC:
X:153607856 C / T
gnomAD v2:
X-153607856-C-T
gnomAD v3:
X-154379496-C-T
gnomAD v4:
X-154379496-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154379496C>T , CM000685.2:g.154379496C>T | GRCh38 |
| NC_000023.10:g.153607856C>T , CM000685.1:g.153607856C>T | GRCh37 |
| NC_000023.9:g.153261050C>T | NCBI36 |
| NG_008677.1:g.10061C>T , LRG_745:g.10061C>T | |
| NG_011506.1:g.151G>A | |
| NG_011506.2:g.143G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682114.1:c.12C>T | ENSP00000507245.1:p.Tyr4= | |
| ENST00000683627.1:c.12C>T | ENSP00000507533.1:p.Tyr4= | |
| ENST00000684082.1:c.12C>T | ENSP00000508266.1:p.Tyr4= | |
| ENST00000684678.1:c.12C>T | ENSP00000507059.1:p.Tyr4= | |
| ENST00000369842.9:c.12C>T MANE Select | ENSP00000358857.4:p.Tyr4= | |
| ENST00000369835.3:c.12C>T | ENSP00000358850.3:p.Tyr4= | |
| ENST00000369842.8:c.12C>T | ENSP00000358857.4:p.Tyr4= | |
| ENST00000428228.5:c.12C>T | ENSP00000401081.1:p.Tyr4= | |
| ENST00000485261.1:n.93C>T | ||
| ENST00000486738.5:n.156C>T | ||
| ENST00000494443.5:n.69C>T | ||
| NM_000117.2:c.12C>T , LRG_745t1:c.12C>T | NP_000108.1:p.Tyr4= | |
| XM_024452349.1:c.-197C>T | XP_024308117.1:n.-197C>T | |
| NM_000117.3:c.12C>T MANE Select | NP_000108.1:p.Tyr4= |