Linked Data
ClinVar Variation Id:
368671
ClinVar RCV Id:
RCV000330393
dbSNP Id:
rs201336957
ExAC:
X:79286591 C / A
gnomAD v2:
X-79286591-C-A
gnomAD v3:
X-80031092-C-A
gnomAD v4:
X-80031092-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.80031092C>A , CM000685.2:g.80031092C>A | GRCh38 |
| NC_000023.10:g.79286591C>A , CM000685.1:g.79286591C>A | GRCh37 |
| NC_000023.9:g.79173247C>A | NCBI36 |
| NG_008998.1:g.21337C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373296.8:c.1544C>A MANE Select | ENSP00000362393.3:p.Ala515Glu | |
| ENST00000373294.8:c.1544C>A | ENSP00000362390.5:p.Ala515Glu | |
| ENST00000373296.7:c.1544C>A | ENSP00000362393.3:p.Ala515Glu | |
| ENST00000626498.2:c.*1156C>A | ENSP00000487527.1:n.*1156C>A | |
| ENST00000626877.1:n.1423C>A | ||
| NM_001109878.1:c.1544C>A | NP_001103348.1:p.Ala515Glu | |
| NM_001109879.1:c.1184C>A | NP_001103349.1:p.Ala395Glu | |
| NM_001303475.1:c.1184C>A | NP_001290404.1:p.Ala395Glu | |
| NM_016954.2:c.1544C>A | NP_058650.1:p.Ala515Glu | |
| XM_005262136.2:c.1547C>A | XP_005262193.1:p.Ala516Glu | |
| XM_006724657.2:c.953-1872C>A | XP_006724720.1:n.953-1872C>A | |
| XM_011530972.1:c.1184C>A | XP_011529274.1:p.Ala395Glu | |
| NM_001109878.2:c.1544C>A MANE Select | NP_001103348.1:p.Ala515Glu | |
| NM_001109879.2:c.1184C>A | NP_001103349.1:p.Ala395Glu |