Linked Data
dbSNP Id:
rs397722178
ExAC:
14:74726518 C / CT
gnomAD v2:
14-74726518-C-CT
gnomAD v4:
14-74259815-C-CT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74259816dup , CM000676.2:g.74259816dup | GRCh38 |
| NC_000014.8:g.74726519dup , CM000676.1:g.74726519dup | GRCh37 |
| NC_000014.7:g.73796272dup | NCBI36 |
| NG_013092.1:g.25345dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261980.3:c.760+34dup MANE Select | ENSP00000261980.2:n.760+34dup | |
| ENST00000261980.2:c.760+34dup | ENSP00000261980.2:n.760+34dup | |
| NM_182894.2:c.760+34dup | NP_878314.1:n.760+34dup | |
| XM_011536719.1:c.760+34dup | XP_011535021.1:n.760+34dup | |
| NM_182894.3:c.760+34dup MANE Select | NP_878314.1:n.760+34dup |