Linked Data
dbSNP Id:
rs1263697818
gnomAD v2:
5-54529370-C-CT
gnomAD v3:
5-55233542-C-CT
gnomAD v4:
5-55233542-C-CT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55233545dup , CM000667.2:g.55233545dup | GRCh38 |
| NC_000005.9:g.54529373dup , CM000667.1:g.54529373dup | GRCh37 |
| NC_000005.8:g.54565130dup | NCBI36 |
| NG_034201.1:g.5175dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282572.5:c.-20dup MANE Select | ENSP00000282572.4:n.-20dup | |
| ENST00000282572.4:c.-20dup | ENSP00000282572.4:n.-20dup | |
| ENST00000501463.2:c.-20dup | ENSP00000422485.1:n.-20dup | |
| NM_021147.4:c.-20dup | NP_066970.3:n.-20dup | |
| NR_125346.1:n.175dup | ||
| NR_125347.1:n.175dup | ||
| NM_021147.5:c.-20dup MANE Select | NP_066970.3:n.-20dup | |
| NR_125346.2:n.66dup | ||
| NR_125347.2:n.66dup |