Linked Data
ClinVar Variation Id:
368660
ClinVar RCV Id:
RCV000334771
dbSNP Id:
rs73496511
gnomAD v2:
X-79270286-G-A
gnomAD v3:
X-80014787-G-A
gnomAD v4:
X-80014787-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.80014787G>A , CM000685.2:g.80014787G>A | GRCh38 |
| NC_000023.10:g.79270286G>A , CM000685.1:g.79270286G>A | GRCh37 |
| NC_000023.9:g.79156942G>A | NCBI36 |
| NG_008998.1:g.5032G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373296.8:c.-103G>A MANE Select | ENSP00000362393.3:n.-103G>A | |
| ENST00000373296.7:c.-103G>A | ENSP00000362393.3:n.-103G>A | |
| ENST00000476373.1:n.19G>A | ||
| ENST00000626498.2:c.-103G>A | ENSP00000487527.1:n.-103G>A | |
| NM_001109878.1:c.-103G>A | NP_001103348.1:n.-103G>A | |
| NM_001109879.1:c.-459G>A | NP_001103349.1:n.-459G>A | |
| XM_005262136.2:c.-103G>A | XP_005262193.1:n.-103G>A | |
| XM_006724657.2:c.-103G>A | XP_006724720.1:n.-103G>A | |
| NM_001109878.2:c.-103G>A MANE Select | NP_001103348.1:n.-103G>A | |
| NM_001109879.2:c.-459G>A | NP_001103349.1:n.-459G>A |