Linked Data
ClinVar Variation Id:
969920
ClinVar RCV Id:
RCV001245376
dbSNP Id:
rs745652226
ExAC:
X:70330790 T / C
gnomAD v2:
X-70330790-T-C
gnomAD v3:
X-71110940-T-C
gnomAD v4:
X-71110940-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.71110940T>C , CM000685.2:g.71110940T>C | GRCh38 |
| NC_000023.10:g.70330790T>C , CM000685.1:g.70330790T>C | GRCh37 |
| NC_000023.9:g.70247515T>C | NCBI36 |
| NG_009088.1:g.5614A>G , LRG_150:g.5614A>G | |
| NG_021141.1:g.849A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000482750.6:c.226A>G | ENSP00000421262.2:p.Ser76Gly | |
| ENST00000696903.1:n.277A>G | ||
| ENST00000374202.7:c.226A>G MANE Select | ENSP00000363318.3:p.Ser76Gly | |
| ENST00000642473.1:n.590A>G | ||
| ENST00000644022.1:n.632A>G | ||
| ENST00000644708.1:n.632A>G | ||
| ENST00000644911.1:n.632A>G | ||
| ENST00000645266.1:c.226A>G | ENSP00000493734.1:p.Ser76Gly | |
| ENST00000645518.1:c.226A>G | ENSP00000493986.1:p.Ser76Gly | |
| ENST00000646106.1:c.226A>G | ENSP00000496437.1:p.Ser76Gly | |
| ENST00000646505.1:c.226A>G | ENSP00000496673.1:p.Ser76Gly | |
| ENST00000647492.1:c.226A>G | ENSP00000495340.1:p.Ser76Gly | |
| ENST00000276110.6:n.611A>G | ||
| ENST00000374188.7:c.-491A>G | ENSP00000363303.3:n.-491A>G | |
| ENST00000374202.6:c.226A>G | ENSP00000363318.2:p.Ser76Gly | |
| ENST00000456850.6:c.24+485A>G | ENSP00000388967.2:n.24+485A>G | |
| ENST00000464642.5:c.94A>G | ENSP00000425233.1:p.Ser32Gly | |
| ENST00000473378.1:c.163A>G | ENSP00000423601.1:p.Ser55Gly | |
| ENST00000487883.1:c.190A>G | ENSP00000423966.1:p.Ser64Gly | |
| ENST00000512747.3:n.293A>G | ||
| NM_000206.2:c.226A>G , LRG_150t1:c.226A>G | NP_000197.1:p.Ser76Gly | |
| NM_000206.3:c.226A>G MANE Select | NP_000197.1:p.Ser76Gly |