Linked Data
ClinVar Variation Id:
1617502
ClinVar RCV Id:
RCV002079294
dbSNP Id:
rs1557045279
gnomAD v2:
X-152959401-C-T
gnomAD v4:
X-153693946-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153693946C>T , CM000685.2:g.153693946C>T | GRCh38 |
| NC_000023.10:g.152959401C>T , CM000685.1:g.152959401C>T | GRCh37 |
| NC_000023.9:g.152612595C>T | NCBI36 |
| NG_012016.1:g.10650C>T | |
| NG_012016.2:g.10650C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253122.10:c.1183C>T MANE Select | ENSP00000253122.5:p.Leu395= | |
| ENST00000253122.9:c.1183C>T | ENSP00000253122.5:p.Leu395= | |
| ENST00000413787.1:c.258-258C>T | ENSP00000400463.1:n.258-258C>T | |
| ENST00000430077.6:c.838C>T | ENSP00000403041.2:p.Leu280= | |
| ENST00000442457.1:c.237C>T | ||
| ENST00000457723.1:c.167C>T | ENSP00000394742.1:p.Ala56Val | |
| ENST00000467402.1:n.282C>T | ||
| ENST00000485324.1:n.1216C>T | ||
| NM_001142805.1:c.1153C>T | NP_001136277.1:p.Leu385= | |
| NM_001142806.1:c.838C>T | NP_001136278.1:p.Leu280= | |
| NM_005629.3:c.1183C>T | NP_005620.1:p.Leu395= | |
| NM_005629.4:c.1183C>T MANE Select | NP_005620.1:p.Leu395= | |
| NM_001142805.2:c.1153C>T | NP_001136277.1:p.Leu385= |