Linked Data
ClinVar Variation Id:
368662
ClinVar RCV Id:
RCV000304000
dbSNP Id:
rs147593294
gnomAD v2:
X-79270366-A-G
gnomAD v3:
X-80014867-A-G
gnomAD v4:
X-80014867-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.80014867A>G , CM000685.2:g.80014867A>G | GRCh38 |
| NC_000023.10:g.79270366A>G , CM000685.1:g.79270366A>G | GRCh37 |
| NC_000023.9:g.79157022A>G | NCBI36 |
| NG_008998.1:g.5112A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373296.8:c.-23A>G MANE Select | ENSP00000362393.3:n.-23A>G | |
| ENST00000373296.7:c.-23A>G | ENSP00000362393.3:n.-23A>G | |
| ENST00000476373.1:n.99A>G | ||
| ENST00000626498.2:c.-23A>G | ENSP00000487527.1:n.-23A>G | |
| NM_001109878.1:c.-23A>G | NP_001103348.1:n.-23A>G | |
| NM_001109879.1:c.-379A>G | NP_001103349.1:n.-379A>G | |
| XM_005262136.2:c.-23A>G | XP_005262193.1:n.-23A>G | |
| XM_006724657.2:c.-23A>G | XP_006724720.1:n.-23A>G | |
| XM_011530972.1:c.-1061A>G | XP_011529274.1:n.-1061A>G | |
| NM_001109878.2:c.-23A>G MANE Select | NP_001103348.1:n.-23A>G | |
| NM_001109879.2:c.-379A>G | NP_001103349.1:n.-379A>G |