Linked Data
dbSNP Id:
rs372219008
gnomAD v2:
X-152959512-C-G
gnomAD v3:
X-153694057-C-G
gnomAD v4:
X-153694057-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153694057C>G , CM000685.2:g.153694057C>G | GRCh38 |
| NC_000023.10:g.152959512C>G , CM000685.1:g.152959512C>G | GRCh37 |
| NC_000023.9:g.152612706C>G | NCBI36 |
| NG_012016.1:g.10761C>G | |
| NG_012016.2:g.10761C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253122.10:c.1254+40C>G MANE Select | ENSP00000253122.5:n.1254+40C>G | |
| ENST00000253122.9:c.1254+40C>G | ENSP00000253122.5:n.1254+40C>G | |
| ENST00000413787.1:c.258-147C>G | ENSP00000400463.1:n.258-147C>G | |
| ENST00000430077.6:c.909+40C>G | ENSP00000403041.2:n.909+40C>G | |
| ENST00000442457.1:c.308+40C>G | ||
| ENST00000457723.1:c.238+40C>G | ENSP00000394742.1:n.238+40C>G | |
| ENST00000485324.1:n.1327C>G | ||
| NM_001142805.1:c.1224+40C>G | NP_001136277.1:n.1224+40C>G | |
| NM_001142806.1:c.909+40C>G | NP_001136278.1:n.909+40C>G | |
| NM_005629.3:c.1254+40C>G | NP_005620.1:n.1254+40C>G | |
| NM_005629.4:c.1254+40C>G MANE Select | NP_005620.1:n.1254+40C>G | |
| NM_001142805.2:c.1224+40C>G | NP_001136277.1:n.1224+40C>G |