Linked Data
ClinVar Variation Id:
695291
dbSNP Id:
rs36228499
gnomAD v2:
12-12869936-C-A
gnomAD v3:
12-12717002-C-A
gnomAD v4:
12-12717002-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.12717002C>A , CM000674.2:g.12717002C>A | GRCh38 |
| NC_000012.11:g.12869936C>A , CM000674.1:g.12869936C>A | GRCh37 |
| NC_000012.10:g.12761203C>A | NCBI36 |
| NG_016341.1:g.4635C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682620.1:n.1631-1823C>A (CDKN1B) | ||
| ENST00000684771.1:n.585-1823C>A (CDKN1B) | ||
| ENST00000477087.1:n.154+1119C>A (CDKN1B) | ||
| XM_011520623.1:c.-1496G>T (GPR19) | XP_011518925.1:n.-1496G>T | |
| XM_011520623.3:c.-1496G>T (GPR19) | XP_011518925.1:n.-1496G>T | |
| XM_017019216.2:c.-1524G>T (GPR19) | XP_016874705.1:n.-1524G>T |