Linked Data
dbSNP Id:
rs1225156275
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18789262dup , CM000681.2:g.18789262dup | GRCh38 |
| NC_000019.9:g.18900071dup , CM000681.1:g.18900071dup | GRCh37 |
| NC_000019.8:g.18761071dup | NCBI36 |
| NG_007070.1:g.7044dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.426dup MANE Select | ENSP00000222271.2:p.Ile143TyrfsTer? | |
| ENST00000222271.6:c.426dup | ENSP00000222271.2:p.Ile143TyrfsTer? | |
| ENST00000425807.1:c.391-370dup | ENSP00000403792.1:n.391-370dup | |
| ENST00000542601.6:c.327dup | ENSP00000439156.2:p.Ile110TyrfsTer? | |
| NM_000095.2:c.426dup | NP_000086.2:p.Ile143TyrfsTer? | |
| NM_000095.3:c.426dup MANE Select | NP_000086.2:p.Ile143TyrfsTer? |