Linked Data
dbSNP Id:
rs1985728939
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43169063del , CM000683.2:g.43169063del | GRCh38 |
| NG_009823.1:g.5033del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291554.6:c.-37del MANE Select | ENSP00000291554.2:n.-37del | |
| NM_000394.3:c.-37del | NP_000385.1:n.-37del | |
| XR_001755073.1:n.647+1974del | ||
| NM_000394.4:c.-37del MANE Select | NP_000385.1:n.-37del |