Linked Data
ClinVar Variation Id:
2963023
ClinVar RCV Id:
RCV003828133
dbSNP Id:
rs781910672
ExAC:
X:114844577 T / C
gnomAD v2:
X-114844577-T-C
gnomAD v3:
X-115610265-T-C
gnomAD v4:
X-115610265-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.115610265T>C , CM000685.2:g.115610265T>C | GRCh38 |
| NC_000023.10:g.114844577T>C , CM000685.1:g.114844577T>C | GRCh37 |
| NC_000023.9:g.114750833T>C | NCBI36 |
| NG_012518.2:g.54387T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355899.8:c.15T>C MANE Select | ENSP00000348163.3:p.Ala5= | |
| ENST00000289290.7:c.-171T>C | ENSP00000289290.4:n.-171T>C | |
| ENST00000355899.7:c.15T>C | ENSP00000348163.3:p.Ala5= | |
| ENST00000473026.6:c.15T>C | ENSP00000475900.1:p.Ala5= | |
| ENST00000481823.5:c.15T>C | ENSP00000419051.1:p.Ala5= | |
| ENST00000489283.5:c.15T>C | ENSP00000420458.1:p.Ala5= | |
| ENST00000539310.5:c.15T>C | ENSP00000445339.2:p.Ala5= | |
| ENST00000626746.2:c.15T>C | ENSP00000487343.1:p.Ala5= | |
| NM_001136025.4:c.15T>C | NP_001129497.1:p.Ala5= | |
| NM_001172335.2:c.15T>C | NP_001165806.1:p.Ala5= | |
| NM_001282337.1:c.-171T>C | NP_001269266.1:n.-171T>C | |
| NM_001282338.1:c.-503T>C | NP_001269267.1:n.-503T>C | |
| NM_005032.6:c.15T>C | NP_005023.2:p.Ala5= | |
| XM_011537534.1:c.15T>C | XP_011535836.1:p.Ala5= | |
| NM_005032.7:c.15T>C MANE Select | NP_005023.2:p.Ala5= | |
| NM_001136025.5:c.15T>C | NP_001129497.1:p.Ala5= | |
| NM_001172335.3:c.15T>C | NP_001165806.1:p.Ala5= | |
| NM_001282337.2:c.-171T>C | NP_001269266.1:n.-171T>C | |
| NM_001282338.2:c.-503T>C | NP_001269267.1:n.-503T>C |