Linked Data
ClinVar Variation Id:
465140
ClinVar RCV Id:
RCV000533855
dbSNP Id:
rs782627741
ExAC:
X:152959364 G / A
gnomAD v2:
X-152959364-G-A
gnomAD v4:
X-153693909-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153693909G>A , CM000685.2:g.153693909G>A | GRCh38 |
| NC_000023.10:g.152959364G>A , CM000685.1:g.152959364G>A | GRCh37 |
| NC_000023.9:g.152612558G>A | NCBI36 |
| NG_012016.1:g.10613G>A | |
| NG_012016.2:g.10613G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253122.10:c.1146G>A MANE Select | ENSP00000253122.5:p.Pro382= | |
| ENST00000253122.9:c.1146G>A | ENSP00000253122.5:p.Pro382= | |
| ENST00000413787.1:c.258-295G>A | ENSP00000400463.1:n.258-295G>A | |
| ENST00000430077.6:c.801G>A | ENSP00000403041.2:p.Pro267= | |
| ENST00000442457.1:c.200G>A | ||
| ENST00000457723.1:c.130G>A | ENSP00000394742.1:p.Gly44Arg | |
| ENST00000467402.1:n.245G>A | ||
| ENST00000485324.1:n.1179G>A | ||
| NM_001142805.1:c.1116G>A | NP_001136277.1:p.Pro372= | |
| NM_001142806.1:c.801G>A | NP_001136278.1:p.Pro267= | |
| NM_005629.3:c.1146G>A | NP_005620.1:p.Pro382= | |
| NM_005629.4:c.1146G>A MANE Select | NP_005620.1:p.Pro382= | |
| NM_001142805.2:c.1116G>A | NP_001136277.1:p.Pro372= |