Linked Data
dbSNP Id:
rs1600047174
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.43551609dup , CM000681.2:g.43551609dup | GRCh38 |
| NC_000019.9:g.44055761dup , CM000681.1:g.44055761dup | GRCh37 |
| NC_000019.8:g.48747601dup | NCBI36 |
| NG_033799.1:g.28971dup , LRG_784:g.28971dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262887.10:c.1162dup MANE Select | ENSP00000262887.5:p.Asp388GlyfsTer24 | |
| ENST00000262887.9:c.1162dup | ENSP00000262887.4:p.Asp388GlyfsTer24 | |
| ENST00000543982.5:c.1069dup | ENSP00000443671.1:p.Asp357GlyfsTer24 | |
| ENST00000597811.5:c.772dup | ||
| NM_006297.2:c.1162dup , LRG_784t1:c.1162dup | NP_006288.2:p.Asp388GlyfsTer24 | |
| NM_006297.3:c.1162dup MANE Select | NP_006288.2:p.Asp388GlyfsTer24 |