Linked Data
dbSNP Id:
rs1920045
gnomAD v2:
12-54670398-C-T
gnomAD v3:
12-54276614-C-T
gnomAD v4:
12-54276614-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.54276614C>T , CM000674.2:g.54276614C>T | GRCh38 |
| NC_000012.11:g.54670398C>T , CM000674.1:g.54670398C>T | GRCh37 |
| NC_000012.10:g.52956665C>T | NCBI36 |
| NG_033830.1:g.911C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000209875.9:c.-43+3394G>A (CBX5) MANE Select | ENSP00000209875.4:n.-43+3394G>A | |
| ENST00000209875.8:c.-43+3394G>A (CBX5) | ENSP00000209875.4:n.-43+3394G>A | |
| ENST00000618078.1:n.127-2273G>A (CBX5) | ||
| NM_012117.2:c.-43+3394G>A (CBX5) | NP_036249.1:n.-43+3394G>A | |
| NR_157844.1:n.324-2038C>T (SCAT2) | ||
| NM_012117.3:c.-43+3394G>A (CBX5) MANE Select | NP_036249.1:n.-43+3394G>A |