Linked Data
dbSNP Id:
rs1847523830
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.114044071_114044072del , CM000672.2:g.114044071_114044072del | GRCh38 |
| NC_000010.10:g.115803830_115803831del , CM000672.1:g.115803830_115803831del | GRCh37 |
| NC_000010.9:g.115793820_115793821del | NCBI36 |
| NG_012187.1:g.5025_5026del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369295.4:c.-62_-61del MANE Select | ENSP00000358301.2:n.-62_-61del | |
| ENST00000369295.3:c.-62_-61del | ENSP00000358301.2:n.-62_-61del | |
| NM_000684.2:c.-62_-61del | NP_000675.1:n.-62_-61del | |
| NM_000684.3:c.-62_-61del MANE Select | NP_000675.1:n.-62_-61del |