Linked Data
dbSNP Id:
rs920747580
gnomAD v3:
12-12717296-G-T
gnomAD v4:
12-12717296-G-T
COSMIC:
COSN26553666
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.12717296G>T , CM000674.2:g.12717296G>T | GRCh38 |
| NC_000012.11:g.12870230G>T , CM000674.1:g.12870230G>T | GRCh37 |
| NC_000012.10:g.12761497G>T | NCBI36 |
| NG_016341.1:g.4929G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682620.1:n.1631-1529G>T (CDKN1B) | ||
| ENST00000684771.1:n.585-1529G>T (CDKN1B) | ||
| ENST00000228872.8:c.-544G>T (CDKN1B) | ENSP00000228872.4:n.-544G>T | |
| ENST00000477087.1:n.154+1413G>T (CDKN1B) | ||
| NM_004064.4:c.-544G>T (CDKN1B) | NP_004055.1:n.-544G>T | |
| XM_011520623.3:c.-1790C>A (GPR19) | XP_011518925.1:n.-1790C>A | |
| XM_017019216.2:c.-1818C>A (GPR19) | XP_016874705.1:n.-1818C>A |