Linked Data
ClinVar Variation Id:
1548266
ClinVar RCV Id:
RCV002177586
dbSNP Id:
rs782266040
gnomAD v4:
X-153693945-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153693945G>T , CM000685.2:g.153693945G>T | GRCh38 |
| NC_000023.10:g.152959400G>T , CM000685.1:g.152959400G>T | GRCh37 |
| NC_000023.9:g.152612594G>T | NCBI36 |
| NG_012016.1:g.10649G>T | |
| NG_012016.2:g.10649G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253122.10:c.1182G>T MANE Select | ENSP00000253122.5:p.Thr394= | |
| ENST00000253122.9:c.1182G>T | ENSP00000253122.5:p.Thr394= | |
| ENST00000413787.1:c.258-259G>T | ENSP00000400463.1:n.258-259G>T | |
| ENST00000430077.6:c.837G>T | ENSP00000403041.2:p.Thr279= | |
| ENST00000442457.1:c.236G>T | ||
| ENST00000457723.1:c.166G>T | ENSP00000394742.1:p.Ala56Ser | |
| ENST00000467402.1:n.281G>T | ||
| ENST00000485324.1:n.1215G>T | ||
| NM_001142805.1:c.1152G>T | NP_001136277.1:p.Thr384= | |
| NM_001142806.1:c.837G>T | NP_001136278.1:p.Thr279= | |
| NM_005629.3:c.1182G>T | NP_005620.1:p.Thr394= | |
| NM_005629.4:c.1182G>T MANE Select | NP_005620.1:p.Thr394= | |
| NM_001142805.2:c.1152G>T | NP_001136277.1:p.Thr384= |