Linked Data
ClinVar Variation Id:
465142
ClinVar RCV Id:
RCV000559057
dbSNP Id:
rs1557045281
gnomAD v4:
X-153693947-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153693947T>C , CM000685.2:g.153693947T>C | GRCh38 |
| NC_000023.10:g.152959402T>C , CM000685.1:g.152959402T>C | GRCh37 |
| NC_000023.9:g.152612596T>C | NCBI36 |
| NG_012016.1:g.10651T>C | |
| NG_012016.2:g.10651T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253122.10:c.1184T>C MANE Select | ENSP00000253122.5:p.Leu395Pro | |
| ENST00000253122.9:c.1184T>C | ENSP00000253122.5:p.Leu395Pro | |
| ENST00000413787.1:c.258-257T>C | ENSP00000400463.1:n.258-257T>C | |
| ENST00000430077.6:c.839T>C | ENSP00000403041.2:p.Leu280Pro | |
| ENST00000442457.1:c.238T>C | ||
| ENST00000457723.1:c.168T>C | ENSP00000394742.1:p.Ala56= | |
| ENST00000467402.1:n.283T>C | ||
| ENST00000485324.1:n.1217T>C | ||
| NM_001142805.1:c.1154T>C | NP_001136277.1:p.Leu385Pro | |
| NM_001142806.1:c.839T>C | NP_001136278.1:p.Leu280Pro | |
| NM_005629.3:c.1184T>C | NP_005620.1:p.Leu395Pro | |
| NM_005629.4:c.1184T>C MANE Select | NP_005620.1:p.Leu395Pro | |
| NM_001142805.2:c.1154T>C | NP_001136277.1:p.Leu385Pro |