Linked Data
ClinVar Variation Id:
2148812
ClinVar RCV Id:
RCV003063582
dbSNP Id:
rs778828659
ExAC:
X:107929310 T / C
gnomAD v2:
X-107929310-T-C
gnomAD v3:
X-108686080-T-C
gnomAD v4:
X-108686080-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108686080T>C , CM000685.2:g.108686080T>C | GRCh38 |
| NC_000023.10:g.107929310T>C , CM000685.1:g.107929310T>C | GRCh37 |
| NC_000023.9:g.107815966T>C | NCBI36 |
| NG_011977.1:g.251157T>C | |
| NG_011977.2:g.251157T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328300.11:c.4266T>C MANE Select | ENSP00000331902.7:p.Phe1422= | |
| ENST00000361603.7:c.4248T>C | ENSP00000354505.2:p.Phe1416= | |
| ENST00000510690.2:n.760T>C | ||
| ENST00000328300.10:c.4266T>C | ENSP00000331902.6:p.Phe1422= | |
| ENST00000361603.6:c.4248T>C | ENSP00000354505.2:p.Phe1416= | |
| ENST00000489230.1:n.669T>C | ||
| ENST00000515658.1:c.62T>C | ||
| NM_000495.4:c.4248T>C | NP_000486.1:p.Phe1416= | |
| NM_033380.2:c.4266T>C | NP_203699.1:p.Phe1422= | |
| XM_005262070.2:c.4257T>C | XP_005262127.1:p.Phe1419= | |
| XM_006724616.2:c.4266T>C | XP_006724679.1:p.Phe1422= | |
| XM_011530849.1:c.3942T>C | XP_011529151.1:p.Phe1314= | |
| XM_011530851.1:c.1839T>C | XP_011529153.1:p.Phe613= | |
| XM_011530849.2:c.4281T>C | XP_011529151.2:p.Phe1427= | |
| XM_017029259.2:c.4272T>C | XP_016884748.1:p.Phe1424= | |
| XM_017029260.1:c.4263T>C | XP_016884749.1:p.Phe1421= | |
| XM_017029263.2:c.2601T>C | XP_016884752.1:p.Phe867= | |
| NM_000495.5:c.4248T>C | NP_000486.1:p.Phe1416= | |
| NM_033380.3:c.4266T>C MANE Select | NP_203699.1:p.Phe1422= |