Linked Data
ClinVar Variation Id:
500939
dbSNP Id:
rs782087009
ExAC:
X:153608135 C / T
gnomAD v2:
X-153608135-C-T
gnomAD v4:
X-154379775-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154379775C>T , CM000685.2:g.154379775C>T | GRCh38 |
| NC_000023.10:g.153608135C>T , CM000685.1:g.153608135C>T | GRCh37 |
| NC_000023.9:g.153261329C>T | NCBI36 |
| NG_008677.1:g.10340C>T , LRG_745:g.10340C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682114.1:c.168C>T | ENSP00000507245.1:p.Ala56= | |
| ENST00000682478.1:n.144C>T | ||
| ENST00000683576.1:n.144C>T | ||
| ENST00000683627.1:c.168C>T | ENSP00000507533.1:p.Ala56= | |
| ENST00000684082.1:c.168C>T | ENSP00000508266.1:p.Ala56= | |
| ENST00000684633.1:n.140C>T | ||
| ENST00000684678.1:c.164C>T | ENSP00000507059.1:p.Pro55Leu | |
| ENST00000369842.9:c.168C>T MANE Select | ENSP00000358857.4:p.Ala56= | |
| ENST00000369835.3:c.83-167C>T | ENSP00000358850.3:n.83-167C>T | |
| ENST00000369842.8:c.168C>T | ENSP00000358857.4:p.Ala56= | |
| ENST00000428228.5:c.*73C>T | ENSP00000401081.1:n.*73C>T | |
| ENST00000468294.5:n.128C>T | ||
| ENST00000485261.1:n.164-167C>T | ||
| ENST00000486738.5:n.312C>T | ||
| ENST00000492448.1:n.151C>T | ||
| ENST00000494443.5:n.225C>T | ||
| NM_000117.2:c.168C>T , LRG_745t1:c.168C>T | NP_000108.1:p.Ala56= | |
| XM_024452349.1:c.-41C>T | XP_024308117.1:n.-41C>T | |
| NM_000117.3:c.168C>T MANE Select | NP_000108.1:p.Ala56= |