Linked Data
dbSNP Id:
rs386722179
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.10610126_10610127delinsCC , CM000670.2:g.10610126_10610127delinsCC | GRCh38 |
| NC_000008.10:g.10467636_10467637delinsCC , CM000670.1:g.10467636_10467637delinsCC | GRCh37 |
| NC_000008.9:g.10505046_10505047delinsCC | NCBI36 |
| NG_028035.1:g.49981_49982delinsGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382483.4:c.3971_3972delinsGG MANE Select | ENSP00000371923.3:p.Glu1324Gly | |
| ENST00000382483.3:c.3971_3972delinsGG | ENSP00000371923.3:p.Glu1324Gly | |
| NM_178857.5:c.3971_3972delinsGG | NP_849188.4:p.Glu1324Gly | |
| NM_178857.6:c.3971_3972delinsGG MANE Select | NP_849188.4:p.Glu1324Gly |