Linked Data
dbSNP Id:
rs1847548306
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.114045387_114045393del , CM000672.2:g.114045387_114045393del | GRCh38 |
| NC_000010.10:g.115805146_115805152del , CM000672.1:g.115805146_115805152del | GRCh37 |
| NC_000010.9:g.115795136_115795142del | NCBI36 |
| NG_012187.1:g.6341_6347del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369295.4:c.1255_1261del MANE Select | ENSP00000358301.2:p.Gly419ArgfsTer? | |
| ENST00000369295.3:c.1255_1261del | ENSP00000358301.2:p.Gly419ArgfsTer? | |
| NM_000684.2:c.1255_1261del | NP_000675.1:p.Gly419ArgfsTer? | |
| NM_000684.3:c.1255_1261del MANE Select | NP_000675.1:p.Gly419ArgfsTer? |