Linked Data
dbSNP Id:
rs779033268
ExAC:
8:65528588 T / TA
gnomAD v2:
8-65528588-T-TA
gnomAD v4:
8-64616031-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.64616033dup , CM000670.2:g.64616033dup | GRCh38 |
| NC_000008.10:g.65528590dup , CM000670.1:g.65528590dup | GRCh37 |
| NC_000008.9:g.65691144dup | NCBI36 |
| NG_008338.1:g.187760dup | |
| NG_008338.2:g.187760dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310193.4:c.509dup MANE Select | ENSP00000310721.3:p.Leu170PhefsTer21 | |
| ENST00000310193.3:c.509dup | ENSP00000310721.3:p.Leu170PhefsTer21 | |
| NM_004820.3:c.509dup | NP_004811.1:p.Leu170PhefsTer21 | |
| NM_001324112.1:c.509dup | NP_001311041.1:p.Leu170PhefsTer21 | |
| NM_004820.4:c.509dup | NP_004811.1:p.Leu170PhefsTer21 | |
| XM_017014002.1:c.575dup | XP_016869491.1:p.Leu192PhefsTer21 | |
| NM_004820.5:c.509dup MANE Select | NP_004811.1:p.Leu170PhefsTer21 | |
| NM_001324112.2:c.509dup | NP_001311041.1:p.Leu170PhefsTer21 |