Linked Data
ClinVar Variation Id:
1085129
ClinVar RCV Id:
RCV001402405
dbSNP Id:
rs2148363659
gnomAD v4:
X-153693930-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153693930C>T , CM000685.2:g.153693930C>T | GRCh38 |
| NC_000023.10:g.152959385C>T , CM000685.1:g.152959385C>T | GRCh37 |
| NC_000023.9:g.152612579C>T | NCBI36 |
| NG_012016.1:g.10634C>T | |
| NG_012016.2:g.10634C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253122.10:c.1167C>T MANE Select | ENSP00000253122.5:p.Tyr389= | |
| ENST00000253122.9:c.1167C>T | ENSP00000253122.5:p.Tyr389= | |
| ENST00000413787.1:c.258-274C>T | ENSP00000400463.1:n.258-274C>T | |
| ENST00000430077.6:c.822C>T | ENSP00000403041.2:p.Tyr274= | |
| ENST00000442457.1:c.221C>T | ||
| ENST00000457723.1:c.151C>T | ENSP00000394742.1:p.Pro51Ser | |
| ENST00000467402.1:n.266C>T | ||
| ENST00000485324.1:n.1200C>T | ||
| NM_001142805.1:c.1137C>T | NP_001136277.1:p.Tyr379= | |
| NM_001142806.1:c.822C>T | NP_001136278.1:p.Tyr274= | |
| NM_005629.3:c.1167C>T | NP_005620.1:p.Tyr389= | |
| NM_005629.4:c.1167C>T MANE Select | NP_005620.1:p.Tyr389= | |
| NM_001142805.2:c.1137C>T | NP_001136277.1:p.Tyr379= |