Linked Data
dbSNP Id:
rs1462298602
gnomAD v2:
X-63005212-C-T
gnomAD v3:
X-63785332-C-T
gnomAD v4:
X-63785332-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.63785332C>T , CM000685.2:g.63785332C>T | GRCh38 |
| NC_000023.10:g.63005212C>T , CM000685.1:g.63005212C>T | GRCh37 |
| NC_000023.9:g.62921937C>T | NCBI36 |
| NG_016975.1:g.5215G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374878.5:c.-187G>A | ENSP00000364012.2:n.-187G>A | |
| ENST00000437457.6:c.-187G>A | ENSP00000399994.3:n.-187G>A | |
| ENST00000623417.3:c.-118+10184G>A | ENSP00000485083.1:n.-118+10184G>A | |
| ENST00000623517.3:c.-187G>A | ENSP00000485369.1:n.-187G>A | |
| NM_001173479.1:c.-187G>A | NP_001166950.1:n.-187G>A | |
| XM_005262249.1:c.-187G>A | XP_005262306.1:n.-187G>A | |
| NM_001330495.1:c.-348G>A | NP_001317424.1:n.-348G>A | |
| NM_001353921.1:c.-187G>A | NP_001340850.1:n.-187G>A | |
| NM_001353922.1:c.-187G>A | NP_001340851.1:n.-187G>A | |
| XM_017029378.2:c.-187G>A | XP_016884867.1:n.-187G>A |