Linked Data
dbSNP Id:
rs1741167277
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.45461827_45461828dup , CM000667.2:g.45461827_45461828dup | GRCh38 |
| NC_000005.9:g.45461929_45461930dup , CM000667.1:g.45461929_45461930dup | GRCh37 |
| NC_000005.8:g.45497686_45497687dup | NCBI36 |
| NG_042183.1:g.239293_239294dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303230.6:c.1011+20_1011+21dup MANE Select | ENSP00000307342.4:n.1011+20_1011+21dup | |
| ENST00000637305.1:n.174+20_174+21dup | ||
| ENST00000673735.1:c.1011+20_1011+21dup | ENSP00000501107.1:n.1011+20_1011+21dup | |
| ENST00000303230.5:c.1011+20_1011+21dup | ENSP00000307342.4:n.1011+20_1011+21dup | |
| NM_021072.3:c.1011+20_1011+21dup | NP_066550.2:n.1011+20_1011+21dup | |
| NM_021072.4:c.1011+20_1011+21dup MANE Select | NP_066550.2:n.1011+20_1011+21dup |