Linked Data
dbSNP Id:
rs1192671843
gnomAD v2:
X-63005102-T-A
gnomAD v3:
X-63785222-T-A
gnomAD v4:
X-63785222-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.63785222T>A , CM000685.2:g.63785222T>A | GRCh38 |
| NC_000023.10:g.63005102T>A , CM000685.1:g.63005102T>A | GRCh37 |
| NC_000023.9:g.62921827T>A | NCBI36 |
| NG_016975.1:g.5325A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374878.5:c.-77A>T | ENSP00000364012.2:n.-77A>T | |
| ENST00000437457.6:c.-77A>T | ENSP00000399994.3:n.-77A>T | |
| ENST00000623417.3:c.-118+10294A>T | ENSP00000485083.1:n.-118+10294A>T | |
| ENST00000623517.3:c.-77A>T | ENSP00000485369.1:n.-77A>T | |
| NM_001173479.1:c.-77A>T | NP_001166950.1:n.-77A>T | |
| XM_005262249.1:c.-77A>T | XP_005262306.1:n.-77A>T | |
| NM_001330495.1:c.-238A>T | NP_001317424.1:n.-238A>T | |
| NM_001353921.1:c.-77A>T | NP_001340850.1:n.-77A>T | |
| NM_001353922.1:c.-77A>T | NP_001340851.1:n.-77A>T | |
| XM_017029378.2:c.-77A>T | XP_016884867.1:n.-77A>T |