Linked Data
ClinVar Variation Id:
882212
ClinVar RCV Id:
RCV001111698
dbSNP Id:
rs976297634
gnomAD v2:
12-12870552-C-T
gnomAD v3:
12-12717618-C-T
gnomAD v4:
12-12717618-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.12717618C>T , CM000674.2:g.12717618C>T | GRCh38 |
| NC_000012.11:g.12870552C>T , CM000674.1:g.12870552C>T | GRCh37 |
| NC_000012.10:g.12761819C>T | NCBI36 |
| NG_016341.1:g.5251C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614874.2:c.-222C>T (CDKN1B) | ENSP00000507272.1:n.-222C>T | |
| ENST00000682620.1:n.1631-1207C>T (CDKN1B) | ||
| ENST00000684771.1:n.585-1207C>T (CDKN1B) | ||
| ENST00000228872.9:c.-222C>T (CDKN1B) MANE Select | ENSP00000228872.4:n.-222C>T | |
| ENST00000228872.8:c.-222C>T (CDKN1B) | ENSP00000228872.4:n.-222C>T | |
| ENST00000477087.1:n.155-1207C>T (CDKN1B) | ||
| NM_004064.4:c.-222C>T (CDKN1B) | NP_004055.1:n.-222C>T | |
| XM_011520623.3:c.-2112G>A (GPR19) | XP_011518925.1:n.-2112G>A | |
| XM_017019216.2:c.-2140G>A (GPR19) | XP_016874705.1:n.-2140G>A | |
| NM_004064.5:c.-222C>T (CDKN1B) MANE Select | NP_004055.1:n.-222C>T |