Linked Data
dbSNP Id:
rs1572784004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21011012del , CM000664.2:g.21011012del | GRCh38 |
| NC_000002.11:g.21233884del , CM000664.1:g.21233884del | GRCh37 |
| NC_000002.10:g.21087389del | NCBI36 |
| NG_011793.1:g.38062del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233242.5:c.5856del MANE Select | ENSP00000233242.1:p.His1953IlefsTer? | |
| ENST00000616098.4:c.5856del | ENSP00000477990.1:p.His1953IlefsTer? | |
| NM_000384.2:c.5856del | NP_000375.2:p.His1953IlefsTer? | |
| XM_011532809.1:c.5856del | XP_011531111.1:p.His1953IlefsTer? | |
| NM_000384.3:c.5856del MANE Select | NP_000375.3:p.His1953IlefsTer? |