Linked Data
dbSNP Id:
rs2059005210
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240873923_240873927dup , CM000664.2:g.240873923_240873927dup | GRCh38 |
| NC_000002.11:g.241813340_241813344dup , CM000664.1:g.241813340_241813344dup | GRCh37 |
| NC_000002.10:g.241462013_241462017dup | NCBI36 |
| NG_008005.1:g.10179_10183dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.596-55_596-51dup MANE Select | ENSP00000302620.3:n.596-55_596-51dup | |
| ENST00000307503.3:c.596-55_596-51dup | ENSP00000302620.3:n.596-55_596-51dup | |
| ENST00000476698.1:n.332+874_332+878dup | ||
| NM_000030.2:c.596-55_596-51dup | NP_000021.1:n.596-55_596-51dup | |
| NM_000030.3:c.596-55_596-51dup MANE Select | NP_000021.1:n.596-55_596-51dup |