Linked Data
ClinVar Variation Id:
624450
ClinVar RCV Id:
RCV000762678
dbSNP Id:
rs1557045310
gnomAD v4:
X-153693981-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153693981C>A , CM000685.2:g.153693981C>A | GRCh38 |
| NC_000023.10:g.152959436C>A , CM000685.1:g.152959436C>A | GRCh37 |
| NC_000023.9:g.152612630C>A | NCBI36 |
| NG_012016.1:g.10685C>A | |
| NG_012016.2:g.10685C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253122.10:c.1218C>A MANE Select | ENSP00000253122.5:p.Phe406Leu | |
| ENST00000253122.9:c.1218C>A | ENSP00000253122.5:p.Phe406Leu | |
| ENST00000413787.1:c.258-223C>A | ENSP00000400463.1:n.258-223C>A | |
| ENST00000430077.6:c.873C>A | ENSP00000403041.2:p.Phe291Leu | |
| ENST00000442457.1:c.272C>A | ||
| ENST00000457723.1:c.202C>A | ENSP00000394742.1:p.Leu68Ile | |
| ENST00000485324.1:n.1251C>A | ||
| NM_001142805.1:c.1188C>A | NP_001136277.1:p.Phe396Leu | |
| NM_001142806.1:c.873C>A | NP_001136278.1:p.Phe291Leu | |
| NM_005629.3:c.1218C>A | NP_005620.1:p.Phe406Leu | |
| NM_005629.4:c.1218C>A MANE Select | NP_005620.1:p.Phe406Leu | |
| NM_001142805.2:c.1188C>A | NP_001136277.1:p.Phe396Leu |