Linked Data
dbSNP Id:
rs1978295161
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8085833dup , CM000679.2:g.8085833dup | GRCh38 |
| NC_000017.10:g.7989151dup , CM000679.1:g.7989151dup | GRCh37 |
| NC_000017.9:g.7929876dup | NCBI36 |
| NG_007099.1:g.6872dup | |
| NG_007099.2:g.6885dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647874.1:c.352+184dup MANE Select | ENSP00000497784.1:n.352+184dup | |
| ENST00000319144.4:c.352+184dup | ENSP00000315167.4:n.352+184dup | |
| NM_001139.2:c.352+184dup | NP_001130.1:n.352+184dup | |
| NM_001139.3:c.352+184dup MANE Select | NP_001130.1:n.352+184dup |