Linked Data
ClinVar Variation Id:
1040216
ClinVar RCV Id:
RCV001343819
dbSNP Id:
rs1557045287
gnomAD v2:
X-152959414-C-T
gnomAD v4:
X-153693959-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153693959C>T , CM000685.2:g.153693959C>T | GRCh38 |
| NC_000023.10:g.152959414C>T , CM000685.1:g.152959414C>T | GRCh37 |
| NC_000023.9:g.152612608C>T | NCBI36 |
| NG_012016.1:g.10663C>T | |
| NG_012016.2:g.10663C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253122.10:c.1196C>T MANE Select | ENSP00000253122.5:p.Ala399Val | |
| ENST00000253122.9:c.1196C>T | ENSP00000253122.5:p.Ala399Val | |
| ENST00000413787.1:c.258-245C>T | ENSP00000400463.1:n.258-245C>T | |
| ENST00000430077.6:c.851C>T | ENSP00000403041.2:p.Ala284Val | |
| ENST00000442457.1:c.250C>T | ||
| ENST00000457723.1:c.180C>T | ENSP00000394742.1:p.Gly60= | |
| ENST00000467402.1:n.295C>T | ||
| ENST00000485324.1:n.1229C>T | ||
| NM_001142805.1:c.1166C>T | NP_001136277.1:p.Ala389Val | |
| NM_001142806.1:c.851C>T | NP_001136278.1:p.Ala284Val | |
| NM_005629.3:c.1196C>T | NP_005620.1:p.Ala399Val | |
| NM_005629.4:c.1196C>T MANE Select | NP_005620.1:p.Ala399Val | |
| NM_001142805.2:c.1166C>T | NP_001136277.1:p.Ala389Val |