Linked Data
ClinVar Variation Id:
24638
dbSNP Id:
rs104886237
ExAC:
X:107909779 G / A
gnomAD v2:
X-107909779-G-A
gnomAD v4:
X-108666549-G-A
PubMed:
PMID:10561141
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108666549G>A , CM000685.2:g.108666549G>A | GRCh38 |
| NC_000023.10:g.107909779G>A , CM000685.1:g.107909779G>A | GRCh37 |
| NC_000023.9:g.107796435G>A | NCBI36 |
| NG_011977.1:g.231626G>A | |
| NG_011977.2:g.231626G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328300.11:c.3508G>A MANE Select | ENSP00000331902.7:p.Gly1170Ser | |
| ENST00000361603.7:c.3508G>A | ENSP00000354505.2:p.Gly1170Ser | |
| ENST00000328300.10:c.3508G>A | ENSP00000331902.6:p.Gly1170Ser | |
| ENST00000361603.6:c.3508G>A | ENSP00000354505.2:p.Gly1170Ser | |
| NM_000495.4:c.3508G>A | NP_000486.1:p.Gly1170Ser | |
| NM_033380.2:c.3508G>A | NP_203699.1:p.Gly1170Ser | |
| XM_005262070.2:c.3508G>A | XP_005262127.1:p.Gly1170Ser | |
| XM_006724616.2:c.3508G>A | XP_006724679.1:p.Gly1170Ser | |
| XM_011530849.1:c.3184G>A | XP_011529151.1:p.Gly1062Ser | |
| XM_011530850.1:c.3508G>A | XP_011529152.1:p.Gly1170Ser | |
| XM_011530851.1:c.1081G>A | XP_011529153.1:p.Gly361Ser | |
| XM_011530849.2:c.3523G>A | XP_011529151.2:p.Gly1175Ser | |
| XM_017029259.2:c.3523G>A | XP_016884748.1:p.Gly1175Ser | |
| XM_017029260.1:c.3523G>A | XP_016884749.1:p.Gly1175Ser | |
| XM_017029261.1:c.3523G>A | XP_016884750.1:p.Gly1175Ser | |
| XM_017029262.2:c.3523G>A | XP_016884751.1:p.Gly1175Ser | |
| XM_017029263.2:c.1843G>A | XP_016884752.1:p.Gly615Ser | |
| NM_000495.5:c.3508G>A | NP_000486.1:p.Gly1170Ser | |
| NM_033380.3:c.3508G>A MANE Select | NP_203699.1:p.Gly1170Ser |