Linked Data
ClinVar Variation Id:
1105269
ClinVar RCV Id:
RCV001429566
dbSNP Id:
rs781971678
ExAC:
X:152959674 C / A
gnomAD v2:
X-152959674-C-A
gnomAD v3:
X-153694219-C-A
gnomAD v4:
X-153694219-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153694219C>A , CM000685.2:g.153694219C>A | GRCh38 |
| NC_000023.10:g.152959674C>A , CM000685.1:g.152959674C>A | GRCh37 |
| NC_000023.9:g.152612868C>A | NCBI36 |
| NG_012016.1:g.10923C>A | |
| NG_012016.2:g.10923C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253122.10:c.1344C>A MANE Select | ENSP00000253122.5:p.Ala448= | |
| ENST00000253122.9:c.1344C>A | ENSP00000253122.5:p.Ala448= | |
| ENST00000413787.1:c.273C>A | ENSP00000400463.1:p.Ala91= | |
| ENST00000430077.6:c.999C>A | ENSP00000403041.2:p.Ala333= | |
| ENST00000442457.1:c.398C>A | ||
| ENST00000485324.1:n.1489C>A | ||
| NM_001142805.1:c.1314C>A | NP_001136277.1:p.Ala438= | |
| NM_001142806.1:c.999C>A | NP_001136278.1:p.Ala333= | |
| NM_005629.3:c.1344C>A | NP_005620.1:p.Ala448= | |
| NM_005629.4:c.1344C>A MANE Select | NP_005620.1:p.Ala448= | |
| NM_001142805.2:c.1314C>A | NP_001136277.1:p.Ala438= |