Linked Data
dbSNP Id:
rs2058977529
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240869130_240869137dup , CM000664.2:g.240869130_240869137dup | GRCh38 |
| NC_000002.11:g.241808547_241808554dup , CM000664.1:g.241808547_241808554dup | GRCh37 |
| NC_000002.10:g.241457220_241457227dup | NCBI36 |
| NG_008005.1:g.5386_5393dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.166-40_166-33dup MANE Select | ENSP00000302620.3:n.166-40_166-33dup | |
| ENST00000307503.3:c.166-40_166-33dup | ENSP00000302620.3:n.166-40_166-33dup | |
| ENST00000472436.1:n.186-40_186-33dup | ||
| NM_000030.2:c.166-40_166-33dup | NP_000021.1:n.166-40_166-33dup | |
| XR_924060.1:n.405+1102_405+1109dup | ||
| NM_000030.3:c.166-40_166-33dup MANE Select | NP_000021.1:n.166-40_166-33dup |