Linked Data
ClinVar Variation Id:
1433810
ClinVar RCV Id:
RCV001952734
dbSNP Id:
rs779142914
ExAC:
X:107802316 T / G
gnomAD v2:
X-107802316-T-G
gnomAD v4:
X-108559086-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108559086T>G , CM000685.2:g.108559086T>G | GRCh38 |
| NC_000023.10:g.107802316T>G , CM000685.1:g.107802316T>G | GRCh37 |
| NC_000023.9:g.107688972T>G | NCBI36 |
| NG_011977.1:g.124163T>G | |
| NG_011977.2:g.124163T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328300.11:c.164T>G MANE Select | ENSP00000331902.7:p.Leu55Trp | |
| ENST00000361603.7:c.164T>G | ENSP00000354505.2:p.Leu55Trp | |
| ENST00000328300.10:c.164T>G | ENSP00000331902.6:p.Leu55Trp | |
| ENST00000361603.6:c.164T>G | ENSP00000354505.2:p.Leu55Trp | |
| ENST00000470339.1:n.348T>G | ||
| NM_000495.4:c.164T>G | NP_000486.1:p.Leu55Trp | |
| NM_033380.2:c.164T>G | NP_203699.1:p.Leu55Trp | |
| XM_005262070.2:c.164T>G | XP_005262127.1:p.Leu55Trp | |
| XM_005262072.3:c.164T>G | XP_005262129.1:p.Leu55Trp | |
| XM_006724616.2:c.164T>G | XP_006724679.1:p.Leu55Trp | |
| XM_011530849.1:c.-161T>G | XP_011529151.1:n.-161T>G | |
| XM_011530850.1:c.164T>G | XP_011529152.1:p.Leu55Trp | |
| XM_011530849.2:c.179T>G | XP_011529151.2:p.Leu60Trp | |
| XM_017029259.2:c.179T>G | XP_016884748.1:p.Leu60Trp | |
| XM_017029260.1:c.179T>G | XP_016884749.1:p.Leu60Trp | |
| XM_017029261.1:c.179T>G | XP_016884750.1:p.Leu60Trp | |
| XM_017029262.2:c.179T>G | XP_016884751.1:p.Leu60Trp | |
| NM_000495.5:c.164T>G | NP_000486.1:p.Leu55Trp | |
| NM_033380.3:c.164T>G MANE Select | NP_203699.1:p.Leu55Trp |