Linked Data
ClinVar Variation Id:
1123133
ClinVar RCV Id:
RCV001454042
dbSNP Id:
rs755903473
ExAC:
X:107929283 T / A
gnomAD v2:
X-107929283-T-A
gnomAD v3:
X-108686053-T-A
gnomAD v4:
X-108686053-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108686053T>A , CM000685.2:g.108686053T>A | GRCh38 |
| NC_000023.10:g.107929283T>A , CM000685.1:g.107929283T>A | GRCh37 |
| NC_000023.9:g.107815939T>A | NCBI36 |
| NG_011977.1:g.251130T>A | |
| NG_011977.2:g.251130T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328300.11:c.4239T>A MANE Select | ENSP00000331902.7:p.Asp1413Glu | |
| ENST00000361603.7:c.4221T>A | ENSP00000354505.2:p.Asp1407Glu | |
| ENST00000510690.2:n.733T>A | ||
| ENST00000328300.10:c.4239T>A | ENSP00000331902.6:p.Asp1413Glu | |
| ENST00000361603.6:c.4221T>A | ENSP00000354505.2:p.Asp1407Glu | |
| ENST00000489230.1:n.642T>A | ||
| ENST00000515658.1:c.35T>A | ||
| NM_000495.4:c.4221T>A | NP_000486.1:p.Asp1407Glu | |
| NM_033380.2:c.4239T>A | NP_203699.1:p.Asp1413Glu | |
| XM_005262070.2:c.4230T>A | XP_005262127.1:p.Asp1410Glu | |
| XM_006724616.2:c.4239T>A | XP_006724679.1:p.Asp1413Glu | |
| XM_011530849.1:c.3915T>A | XP_011529151.1:p.Asp1305Glu | |
| XM_011530851.1:c.1812T>A | XP_011529153.1:p.Asp604Glu | |
| XM_011530849.2:c.4254T>A | XP_011529151.2:p.Asp1418Glu | |
| XM_017029259.2:c.4245T>A | XP_016884748.1:p.Asp1415Glu | |
| XM_017029260.1:c.4236T>A | XP_016884749.1:p.Asp1412Glu | |
| XM_017029263.2:c.2574T>A | XP_016884752.1:p.Asp858Glu | |
| NM_000495.5:c.4221T>A | NP_000486.1:p.Asp1407Glu | |
| NM_033380.3:c.4239T>A MANE Select | NP_203699.1:p.Asp1413Glu |