Linked Data
dbSNP Id:
rs770469442
ExAC:
14:101200554 G / GC
gnomAD v2:
14-101200554-G-GC
gnomAD v3:
14-100734217-G-GC
gnomAD v4:
14-100734217-G-GC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.100734223dup , CM000676.2:g.100734223dup | GRCh38 |
| NC_000014.8:g.101200560dup , CM000676.1:g.101200560dup | GRCh37 |
| NC_000014.7:g.100270313dup | NCBI36 |
| NG_016863.2:g.12359dup | |
| NG_016863.3:g.12359dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341267.9:c.479dup MANE Select | ENSP00000340292.4:p.Gly161TrpfsTer27 | |
| ENST00000331224.10:c.479dup | ENSP00000331081.6:p.Gly161TrpfsTer27 | |
| ENST00000341267.8:c.479dup | ENSP00000340292.4:p.Gly161TrpfsTer27 | |
| NM_003836.5:c.479dup | NP_003827.3:p.Gly161TrpfsTer27 | |
| NM_001317172.1:c.479dup | NP_001304101.1:p.Gly161TrpfsTer27 | |
| NM_003836.6:c.479dup | NP_003827.3:p.Gly161TrpfsTer27 | |
| NM_001317172.2:c.479dup | NP_001304101.2:p.Gly161TrpfsTer27 | |
| NM_003836.7:c.479dup MANE Select | NP_003827.4:p.Gly161TrpfsTer27 |