Linked Data
dbSNP Id:
rs776691712
ExAC:
12:15130933 C / CG
gnomAD v2:
12-15130933-C-CG
gnomAD v4:
12-14977999-C-CG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.14978005dup , CM000674.2:g.14978005dup | GRCh38 |
| NC_000012.11:g.15130939dup , CM000674.1:g.15130939dup | GRCh37 |
| NC_000012.10:g.15022206dup | NCBI36 |
| NG_016859.1:g.9984dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266395.3:c.-8dup MANE Select | ENSP00000266395.2:n.-8dup | |
| ENST00000266395.2:c.-8dup | ENSP00000266395.2:n.-8dup | |
| NM_006205.2:c.-8dup | NP_006196.1:n.-8dup | |
| XR_931376.1:n.175+11487dup | ||
| XM_017019431.2:c.-8dup | XP_016874920.1:n.-8dup | |
| XR_931376.2:n.389+11487dup | ||
| NM_006205.3:c.-8dup MANE Select | NP_006196.1:n.-8dup |