Linked Data
ClinVar Variation Id:
50315
dbSNP Id:
rs200060292
ExAC:
X:79281097 T / A
gnomAD v2:
X-79281097-T-A
gnomAD v3:
X-80025598-T-A
gnomAD v4:
X-80025598-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.80025598T>A , CM000685.2:g.80025598T>A | GRCh38 |
| NC_000023.10:g.79281097T>A , CM000685.1:g.79281097T>A | GRCh37 |
| NC_000023.9:g.79167753T>A | NCBI36 |
| NG_008998.1:g.15843T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000373296.8:c.459-5T>A MANE Select | ENSP00000362393.3:n.459-5T>A | |
| ENST00000373294.8:c.459-5T>A | ENSP00000362390.5:n.459-5T>A | |
| ENST00000373296.7:c.459-5T>A | ENSP00000362393.3:n.459-5T>A | |
| ENST00000626498.2:c.*71-5T>A | ENSP00000487527.1:n.*71-5T>A | |
| ENST00000626877.1:n.338-5T>A | ||
| NM_001109878.1:c.459-5T>A | NP_001103348.1:n.459-5T>A | |
| NM_001109879.1:c.99-5T>A | NP_001103349.1:n.99-5T>A | |
| NM_001303475.1:c.99-5T>A | NP_001290404.1:n.99-5T>A | |
| NM_016954.2:c.459-5T>A | NP_058650.1:n.459-5T>A | |
| XM_005262136.2:c.462-5T>A | XP_005262193.1:n.462-5T>A | |
| XM_006724657.2:c.462-5T>A | XP_006724720.1:n.462-5T>A | |
| XM_011530972.1:c.99-5T>A | XP_011529274.1:n.99-5T>A | |
| NM_001109878.2:c.459-5T>A MANE Select | NP_001103348.1:n.459-5T>A | |
| NM_001109879.2:c.99-5T>A | NP_001103349.1:n.99-5T>A |