Linked Data
dbSNP Id:
rs1113600
gnomAD v2:
12-78175361-C-T
gnomAD v3:
12-77781581-C-T
gnomAD v4:
12-77781581-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.77781581C>T , CM000674.2:g.77781581C>T | GRCh38 |
| NC_000012.11:g.78175361C>T , CM000674.1:g.78175361C>T | GRCh37 |
| NC_000012.10:g.76699492C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000550042.2:c.73-158738C>T | ENSP00000489639.1:n.73-158738C>T | |
| XM_011538942.1:c.73-158738C>T | XP_011537244.1:n.73-158738C>T | |
| XR_945128.1:n.433-1682C>T | ||
| XR_945129.1:n.417-1682C>T | ||
| XM_017020166.2:c.73-158738C>T | XP_016875655.1:n.73-158738C>T | |
| XM_017020167.1:c.73-158738C>T | XP_016875656.1:n.73-158738C>T |