Linked Data
dbSNP Id:
rs1565673699
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21176850dup , CM000674.2:g.21176850dup | GRCh38 |
| NC_000012.11:g.21329784dup , CM000674.1:g.21329784dup | GRCh37 |
| NC_000012.10:g.21221051dup | NCBI36 |
| NG_011745.1:g.50657dup , LRG_1022:g.50657dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256958.3:c.434dup MANE Select | ENSP00000256958.2:p.Asn145LysfsTer8 | |
| ENST00000256958.2:c.434dup | ENSP00000256958.2:p.Asn145LysfsTer8 | |
| ENST00000543498.5:c.500dup | ||
| NM_006446.4:c.434dup , LRG_1022t1:c.434dup | NP_006437.3:p.Asn145LysfsTer8 | |
| NM_006446.5:c.434dup MANE Select | NP_006437.3:p.Asn145LysfsTer8 |