Linked Data
dbSNP Id:
rs868246768
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23431480_23431481delinsTT , CM000676.2:g.23431480_23431481delinsTT | GRCh38 |
| NC_000014.8:g.23900689_23900690delinsTT , CM000676.1:g.23900689_23900690delinsTT | GRCh37 |
| NC_000014.7:g.22970529_22970530delinsTT | NCBI36 |
| NG_007884.1:g.9181_9182delinsAA , LRG_384:g.9181_9182delinsAA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355349.4:c.733_734delinsAA MANE Select | ENSP00000347507.3:p.Gly245Lys | |
| ENST00000355349.3:c.733_734delinsAA | ENSP00000347507.3:p.Gly245Lys | |
| NM_000257.3:c.733_734delinsAA | NP_000248.2:p.Gly245Lys | |
| XR_245686.3:n.839_840delinsAA | ||
| XM_017021340.1:c.733_734delinsAA | XP_016876829.1:p.Gly245Lys | |
| NM_000257.4:c.733_734delinsAA MANE Select | NP_000248.2:p.Gly245Lys |