Linked Data
dbSNP Id:
rs1162320158
gnomAD v2:
12-12870597-C-CA
gnomAD v3:
12-12717663-C-CA
gnomAD v4:
12-12717663-C-CA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.12717664dup , CM000674.2:g.12717664dup | GRCh38 |
| NC_000012.11:g.12870598dup , CM000674.1:g.12870598dup | GRCh37 |
| NC_000012.10:g.12761865dup | NCBI36 |
| NG_016341.1:g.5297dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000614874.2:c.-176dup (CDKN1B) | ENSP00000507272.1:n.-176dup | |
| ENST00000682620.1:n.1631-1161dup (CDKN1B) | ||
| ENST00000684771.1:n.585-1161dup (CDKN1B) | ||
| ENST00000228872.9:c.-176dup (CDKN1B) MANE Select | ENSP00000228872.4:n.-176dup | |
| ENST00000228872.8:c.-176dup (CDKN1B) | ENSP00000228872.4:n.-176dup | |
| ENST00000477087.1:n.155-1161dup (CDKN1B) | ||
| NM_004064.4:c.-176dup (CDKN1B) | NP_004055.1:n.-176dup | |
| XM_011520623.3:c.-2158dup (GPR19) | XP_011518925.1:n.-2158dup | |
| XM_017019216.2:c.-2186dup (GPR19) | XP_016874705.1:n.-2186dup | |
| NM_004064.5:c.-176dup (CDKN1B) MANE Select | NP_004055.1:n.-176dup |