Linked Data
dbSNP Id:
rs752059786
ExAC:
14:37132769 G / GC
gnomAD v2:
14-37132769-G-GC
gnomAD v4:
14-36663564-G-GC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.36663569dup , CM000676.2:g.36663569dup | GRCh38 |
| NC_000014.8:g.37132774dup , CM000676.1:g.37132774dup | GRCh37 |
| NC_000014.7:g.36202525dup | NCBI36 |
| NG_013357.1:g.11002dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361487.7:c.631+46dup MANE Select | ENSP00000355245.6:n.631+46dup | |
| ENST00000361487.6:c.631+46dup | ENSP00000355245.6:n.631+46dup | |
| ENST00000402703.6:c.631+46dup | ENSP00000384817.2:n.631+46dup | |
| ENST00000554201.1:c.70+46dup | ENSP00000450434.1:n.70+46dup | |
| NM_006194.3:c.631+46dup | NP_006185.1:n.631+46dup | |
| NM_001372076.1:c.631+46dup MANE Select | NP_001359005.1:n.631+46dup | |
| NM_006194.4:c.631+46dup | NP_006185.1:n.631+46dup |