Linked Data
dbSNP Id:
rs758603402
ExAC:
1:16351300 T / TC
gnomAD v2:
1-16351300-T-TC
gnomAD v4:
1-16024805-T-TC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16024807dup , CM000663.2:g.16024807dup | GRCh38 |
| NC_000001.10:g.16351302dup , CM000663.1:g.16351302dup | GRCh37 |
| NC_000001.9:g.16223889dup | NCBI36 |
| NG_009359.1:g.7817dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331433.5:c.274dup MANE Select | ENSP00000332771.4:p.Arg92ProfsTer? | |
| ENST00000331433.4:c.274dup | ENSP00000332771.4:p.Arg92ProfsTer? | |
| ENST00000375692.5:c.274dup | ENSP00000364844.1:p.Arg92ProfsTer? | |
| ENST00000439316.6:c.229+879dup | ENSP00000414445.2:n.229+879dup | |
| ENST00000464764.5:n.889-52dup | ||
| ENST00000495784.1:n.432dup | ||
| NM_001042704.1:c.274dup | NP_001036169.1:p.Arg92ProfsTer? | |
| NM_001257139.1:c.229+879dup | NP_001244068.1:n.229+879dup | |
| NM_004070.3:c.274dup | NP_004061.3:p.Arg92ProfsTer? | |
| NM_004070.4:c.274dup MANE Select | NP_004061.3:p.Arg92ProfsTer? | |
| NM_001042704.2:c.274dup | NP_001036169.1:p.Arg92ProfsTer? | |
| NM_001257139.2:c.229+879dup | NP_001244068.1:n.229+879dup |