Linked Data
dbSNP Id:
rs938310590
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55232913dup , CM000667.2:g.55232913dup | GRCh38 |
| NC_000005.9:g.54528741dup , CM000667.1:g.54528741dup | GRCh37 |
| NC_000005.8:g.54564498dup | NCBI36 |
| NG_034201.1:g.5808dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282572.5:c.381+233dup MANE Select | ENSP00000282572.4:n.381+233dup | |
| ENST00000282572.4:c.381+233dup | ENSP00000282572.4:n.381+233dup | |
| ENST00000501463.2:c.*218dup | ENSP00000422485.1:n.*218dup | |
| NM_021147.4:c.381+233dup | NP_066970.3:n.381+233dup | |
| NR_125346.1:n.808dup | ||
| NR_125347.1:n.580+228dup | ||
| NR_125348.1:n.82dup | ||
| NM_021147.5:c.381+233dup MANE Select | NP_066970.3:n.381+233dup | |
| NR_125346.2:n.699dup | ||
| NR_125347.2:n.471+228dup |