Linked Data
dbSNP Id:
rs34271232
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10656412dup , CM000682.2:g.10656412dup | GRCh38 |
| NC_000020.10:g.10637060dup , CM000682.1:g.10637060dup | GRCh37 |
| NC_000020.9:g.10585060dup | NCBI36 |
| NG_007496.1:g.22637dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.743dup MANE Select | ENSP00000254958.4:p.Gly249ArgfsTer2 | |
| ENST00000254958.9:c.743dup | ENSP00000254958.4:p.Gly249ArgfsTer2 | |
| ENST00000423891.6:n.609dup | ||
| NM_000214.2:c.743dup | NP_000205.1:p.Gly249ArgfsTer2 | |
| NM_000214.3:c.743dup MANE Select | NP_000205.1:p.Gly249ArgfsTer2 |