Linked Data
dbSNP Id:
rs2060995217
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61590577dup , CM000679.2:g.61590577dup | GRCh38 |
| NC_000017.10:g.59667938dup , CM000679.1:g.59667938dup | GRCh37 |
| NC_000017.9:g.57022720dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000521764.3:c.605dup MANE Select | ENSP00000427802.1:p.Asn202LysfsTer3 | |
| ENST00000521764.2:c.605dup | ENSP00000427802.1:p.Asn202LysfsTer3 | |
| NM_199290.3:c.605dup | NP_954984.1:p.Asn202LysfsTer3 | |
| NM_199290.4:c.605dup MANE Select | NP_954984.1:p.Asn202LysfsTer3 |