Linked Data
dbSNP Id:
rs1971869290
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18388965dup , CM000681.2:g.18388965dup | GRCh38 |
| NC_000019.9:g.18499775dup , CM000681.1:g.18499775dup | GRCh37 |
| NC_000019.8:g.18360775dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252809.3:c.*30dup MANE Select | ENSP00000252809.3:n.*30dup | |
| NM_004864.2:c.*30dup | NP_004855.2:n.*30dup | |
| NM_004864.3:c.*30dup | NP_004855.2:n.*30dup | |
| XM_024451789.1:c.*30dup | XP_024307557.1:n.*30dup | |
| NM_004864.4:c.*30dup MANE Select | NP_004855.2:n.*30dup |