Linked Data
dbSNP Id:
rs1421151491
gnomAD v2:
X-63005100-G-A
gnomAD v3:
X-63785220-G-A
gnomAD v4:
X-63785220-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.63785220G>A , CM000685.2:g.63785220G>A | GRCh38 |
| NC_000023.10:g.63005100G>A , CM000685.1:g.63005100G>A | GRCh37 |
| NC_000023.9:g.62921825G>A | NCBI36 |
| NG_016975.1:g.5327C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374878.5:c.-75C>T | ENSP00000364012.2:n.-75C>T | |
| ENST00000437457.6:c.-75C>T | ENSP00000399994.3:n.-75C>T | |
| ENST00000623417.3:c.-118+10296C>T | ENSP00000485083.1:n.-118+10296C>T | |
| ENST00000623517.3:c.-75C>T | ENSP00000485369.1:n.-75C>T | |
| NM_001173479.1:c.-75C>T | NP_001166950.1:n.-75C>T | |
| XM_005262249.1:c.-75C>T | XP_005262306.1:n.-75C>T | |
| NM_001330495.1:c.-236C>T | NP_001317424.1:n.-236C>T | |
| NM_001353921.1:c.-75C>T | NP_001340850.1:n.-75C>T | |
| NM_001353922.1:c.-75C>T | NP_001340851.1:n.-75C>T | |
| XM_017029378.2:c.-75C>T | XP_016884867.1:n.-75C>T |