Linked Data
dbSNP Id:
rs1847520507
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.114043912_114043932dup , CM000672.2:g.114043912_114043932dup | GRCh38 |
| NC_000010.10:g.115803671_115803691dup , CM000672.1:g.115803671_115803691dup | GRCh37 |
| NC_000010.9:g.115793661_115793681dup | NCBI36 |
| NG_012187.1:g.4866_4886dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369295.4:c.-221_-201dup MANE Select | ENSP00000358301.2:n.-221_-201dup | |
| NM_000684.3:c.-221_-201dup MANE Select | NP_000675.1:n.-221_-201dup |