Linked Data
ClinVar Variation Id:
1503222
ClinVar RCV Id:
RCV002022714
dbSNP Id:
rs2148363766
gnomAD v4:
X-153694010-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153694010A>G , CM000685.2:g.153694010A>G | GRCh38 |
| NC_000023.10:g.152959465A>G , CM000685.1:g.152959465A>G | GRCh37 |
| NC_000023.9:g.152612659A>G | NCBI36 |
| NG_012016.1:g.10714A>G | |
| NG_012016.2:g.10714A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253122.10:c.1247A>G MANE Select | ENSP00000253122.5:p.Asp416Gly | |
| ENST00000253122.9:c.1247A>G | ENSP00000253122.5:p.Asp416Gly | |
| ENST00000413787.1:c.258-194A>G | ENSP00000400463.1:n.258-194A>G | |
| ENST00000430077.6:c.902A>G | ENSP00000403041.2:p.Asp301Gly | |
| ENST00000442457.1:c.301A>G | ||
| ENST00000457723.1:c.231A>G | ENSP00000394742.1:p.Arg77= | |
| ENST00000485324.1:n.1280A>G | ||
| NM_001142805.1:c.1217A>G | NP_001136277.1:p.Asp406Gly | |
| NM_001142806.1:c.902A>G | NP_001136278.1:p.Asp301Gly | |
| NM_005629.3:c.1247A>G | NP_005620.1:p.Asp416Gly | |
| NM_005629.4:c.1247A>G MANE Select | NP_005620.1:p.Asp416Gly | |
| NM_001142805.2:c.1217A>G | NP_001136277.1:p.Asp406Gly |