Linked Data
ClinVar Variation Id:
227354
dbSNP Id:
rs371661299
ExAC:
X:153607901 C / T
gnomAD v2:
X-153607901-C-T
gnomAD v3:
X-154379541-C-T
gnomAD v4:
X-154379541-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154379541C>T , CM000685.2:g.154379541C>T | GRCh38 |
| NC_000023.10:g.153607901C>T , CM000685.1:g.153607901C>T | GRCh37 |
| NC_000023.9:g.153261095C>T | NCBI36 |
| NG_008677.1:g.10106C>T , LRG_745:g.10106C>T | |
| NG_011506.1:g.106G>A | |
| NG_011506.2:g.98G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682114.1:c.57C>T | ENSP00000507245.1:p.Tyr19= | |
| ENST00000682478.1:n.33C>T | ||
| ENST00000683576.1:n.33C>T | ||
| ENST00000683627.1:c.57C>T | ENSP00000507533.1:p.Tyr19= | |
| ENST00000684082.1:c.57C>T | ENSP00000508266.1:p.Tyr19= | |
| ENST00000684633.1:n.33C>T | ||
| ENST00000684678.1:c.57C>T | ENSP00000507059.1:p.Tyr19= | |
| ENST00000369842.9:c.57C>T MANE Select | ENSP00000358857.4:p.Tyr19= | |
| ENST00000369835.3:c.57C>T | ENSP00000358850.3:p.Tyr19= | |
| ENST00000369842.8:c.57C>T | ENSP00000358857.4:p.Tyr19= | |
| ENST00000428228.5:c.53+4C>T | ENSP00000401081.1:n.53+4C>T | |
| ENST00000468294.5:n.17C>T | ||
| ENST00000485261.1:n.138C>T | ||
| ENST00000486738.5:n.201C>T | ||
| ENST00000494443.5:n.114C>T | ||
| NM_000117.2:c.57C>T , LRG_745t1:c.57C>T | NP_000108.1:p.Tyr19= | |
| XM_024452349.1:c.-152C>T | XP_024308117.1:n.-152C>T | |
| NM_000117.3:c.57C>T MANE Select | NP_000108.1:p.Tyr19= |