Linked Data
ClinVar Variation Id:
307658
dbSNP Id:
rs34330
gnomAD v2:
12-12870695-T-C
gnomAD v3:
12-12717761-T-C
gnomAD v4:
12-12717761-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.12717761T>C , CM000674.2:g.12717761T>C | GRCh38 |
| NC_000012.11:g.12870695T>C , CM000674.1:g.12870695T>C | GRCh37 |
| NC_000012.10:g.12761962T>C | NCBI36 |
| NG_016341.1:g.5394T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000614874.2:c.-79T>C (CDKN1B) | ENSP00000507272.1:n.-79T>C | |
| ENST00000682620.1:n.1631-1064T>C (CDKN1B) | ||
| ENST00000684771.1:n.585-1064T>C (CDKN1B) | ||
| ENST00000228872.9:c.-79T>C (CDKN1B) MANE Select | ENSP00000228872.4:n.-79T>C | |
| ENST00000228872.8:c.-79T>C (CDKN1B) | ENSP00000228872.4:n.-79T>C | |
| ENST00000477087.1:n.155-1064T>C (CDKN1B) | ||
| NM_004064.4:c.-79T>C (CDKN1B) | NP_004055.1:n.-79T>C | |
| XM_011520623.3:c.-2255A>G (GPR19) | XP_011518925.1:n.-2255A>G | |
| XM_017019216.2:c.-2283A>G (GPR19) | XP_016874705.1:n.-2283A>G | |
| NM_004064.5:c.-79T>C (CDKN1B) MANE Select | NP_004055.1:n.-79T>C |