Linked Data
dbSNP Id:
rs869233544
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23420249dup , CM000676.2:g.23420249dup | GRCh38 |
| NC_000014.8:g.23889458dup , CM000676.1:g.23889458dup | GRCh37 |
| NC_000014.7:g.22959298dup | NCBI36 |
| NG_007884.1:g.20415dup , LRG_384:g.20415dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.3337-13dup MANE Select | ENSP00000347507.3:n.3337-13dup | |
| ENST00000355349.3:c.3337-13dup | ENSP00000347507.3:n.3337-13dup | |
| NM_000257.3:c.3337-13dup | NP_000248.2:n.3337-13dup | |
| XR_245686.3:n.3445-13dup | ||
| XM_017021340.1:c.3337-13dup | XP_016876829.1:n.3337-13dup | |
| NM_000257.4:c.3337-13dup MANE Select | NP_000248.2:n.3337-13dup |