Linked Data
ClinVar Variation Id:
804132
ClinVar RCV Id:
RCV000991009
dbSNP Id:
rs782011714
gnomAD v4:
X-154379496-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154379496C>A , CM000685.2:g.154379496C>A | GRCh38 |
| NC_000023.10:g.153607856C>A , CM000685.1:g.153607856C>A | GRCh37 |
| NC_000023.9:g.153261050C>A | NCBI36 |
| NG_008677.1:g.10061C>A , LRG_745:g.10061C>A | |
| NG_011506.1:g.151G>T | |
| NG_011506.2:g.143G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682114.1:c.12C>A | ENSP00000507245.1:p.Tyr4Ter | |
| ENST00000683627.1:c.12C>A | ENSP00000507533.1:p.Tyr4Ter | |
| ENST00000684082.1:c.12C>A | ENSP00000508266.1:p.Tyr4Ter | |
| ENST00000684678.1:c.12C>A | ENSP00000507059.1:p.Tyr4Ter | |
| ENST00000369842.9:c.12C>A MANE Select | ENSP00000358857.4:p.Tyr4Ter | |
| ENST00000369835.3:c.12C>A | ENSP00000358850.3:p.Tyr4Ter | |
| ENST00000369842.8:c.12C>A | ENSP00000358857.4:p.Tyr4Ter | |
| ENST00000428228.5:c.12C>A | ENSP00000401081.1:p.Tyr4Ter | |
| ENST00000485261.1:n.93C>A | ||
| ENST00000486738.5:n.156C>A | ||
| ENST00000494443.5:n.69C>A | ||
| NM_000117.2:c.12C>A , LRG_745t1:c.12C>A | NP_000108.1:p.Tyr4Ter | |
| XM_024452349.1:c.-197C>A | XP_024308117.1:n.-197C>A | |
| NM_000117.3:c.12C>A MANE Select | NP_000108.1:p.Tyr4Ter |