Linked Data
dbSNP Id:
rs773607339
ExAC:
15:65369953 T / TC
gnomAD v2:
15-65369953-T-TC
gnomAD v4:
15-65077615-T-TC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.65077617dup , CM000677.2:g.65077617dup | GRCh38 |
| NC_000015.9:g.65369955dup , CM000677.1:g.65369955dup | GRCh37 |
| NC_000015.8:g.63157008dup | NCBI36 |
| NG_021411.1:g.5802dup , LRG_682:g.5802dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000432196.5:c.802dup MANE Select | ENSP00000388723.2:p.Gln268ProfsTer? | |
| ENST00000432196.3:c.802dup | ENSP00000388723.2:p.Gln268ProfsTer? | |
| NM_001101362.2:c.802dup , LRG_682t1:c.802dup | NP_001094832.1:p.Gln268ProfsTer? | |
| NM_001101362.3:c.802dup MANE Select | NP_001094832.1:p.Gln268ProfsTer? |