Linked Data
dbSNP Id:
rs1889667855
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75009096_75009098dup , CM000676.2:g.75009096_75009098dup | GRCh38 |
| NC_000014.8:g.75475799_75475801dup , CM000676.1:g.75475799_75475801dup | GRCh37 |
| NC_000014.7:g.74545552_74545554dup | NCBI36 |
| NG_013333.1:g.11188_11190dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266126.10:c.964_966dup MANE Select | ENSP00000266126.5:p.Thr322_Leu323insThr | |
| ENST00000266126.9:c.964_966dup | ENSP00000266126.5:p.Thr322_Leu323insThr | |
| ENST00000556668.1:n.544_546dup | ||
| NM_014239.3:c.964_966dup | NP_055054.1:p.Thr322_Leu323insThr | |
| NM_014239.4:c.964_966dup MANE Select | NP_055054.1:p.Thr322_Leu323insThr |