Linked Data
dbSNP Id:
rs2070001380
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19957939dup , CM000670.2:g.19957939dup | GRCh38 |
| NC_000008.10:g.19815450dup , CM000670.1:g.19815450dup | GRCh37 |
| NC_000008.9:g.19859730dup | NCBI36 |
| NG_008855.1:g.23869dup | |
| NG_008855.2:g.61223dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.1019-1321dup MANE Select | ENSP00000497642.1:n.1019-1321dup | |
| ENST00000650478.1:c.79+1856dup | ENSP00000497560.1:n.79+1856dup | |
| ENST00000311322.8:c.1019-1321dup | ENSP00000309757.6:n.1019-1321dup | |
| NM_000237.2:c.1019-1321dup | NP_000228.1:n.1019-1321dup | |
| NM_000237.3:c.1019-1321dup MANE Select | NP_000228.1:n.1019-1321dup |