Linked Data
dbSNP Id:
rs1418716229
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23429520dup , CM000676.2:g.23429520dup | GRCh38 |
| NC_000014.8:g.23898729dup , CM000676.1:g.23898729dup | GRCh37 |
| NC_000014.7:g.22968569dup | NCBI36 |
| NG_007884.1:g.11142dup , LRG_384:g.11142dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.1139-173dup MANE Select | ENSP00000347507.3:n.1139-173dup | |
| ENST00000355349.3:c.1139-173dup | ENSP00000347507.3:n.1139-173dup | |
| NM_000257.3:c.1139-173dup | NP_000248.2:n.1139-173dup | |
| XR_245686.3:n.1245-173dup | ||
| XM_017021340.1:c.1139-173dup | XP_016876829.1:n.1139-173dup | |
| NM_000257.4:c.1139-173dup MANE Select | NP_000248.2:n.1139-173dup |