Linked Data
dbSNP Id:
rs747524403
ExAC:
15:75047169 C / CG
gnomAD v2:
15-75047169-C-CG
gnomAD v4:
15-74754828-C-CG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74754830dup , CM000677.2:g.74754830dup | GRCh38 |
| NC_000015.9:g.75047171dup , CM000677.1:g.75047171dup | GRCh37 |
| NC_000015.8:g.72834224dup | NCBI36 |
| NG_008431.1:g.37289dup | |
| NG_008431.2:g.37289dup | |
| NG_061543.1:g.10986dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000343932.5:c.1293dup MANE Select | ENSP00000342007.4:p.Phe432ValfsTer10 | |
| ENST00000343932.4:c.1293dup | ENSP00000342007.4:p.Phe432ValfsTer10 | |
| NM_000761.4:c.1293dup | NP_000752.2:p.Phe432ValfsTer10 | |
| NM_000761.5:c.1293dup MANE Select | NP_000752.2:p.Phe432ValfsTer10 |