Linked Data
dbSNP Id:
rs754076111
ExAC:
17:39739449 C / CA
gnomAD v2:
17-39739449-C-CA
gnomAD v4:
17-41583197-C-CA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41583198dup , CM000679.2:g.41583198dup | GRCh38 |
| NC_000017.10:g.39739450dup , CM000679.1:g.39739450dup | GRCh37 |
| NC_000017.9:g.36992976dup | NCBI36 |
| NG_008624.1:g.8698dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000167586.7:c.1274+37dup MANE Select | ENSP00000167586.6:n.1274+37dup | |
| ENST00000167586.6:c.1274+37dup | ENSP00000167586.6:n.1274+37dup | |
| ENST00000441550.2:n.221+37dup | ||
| NM_000526.4:c.1274+37dup | NP_000517.2:n.1274+37dup | |
| NM_000526.5:c.1274+37dup MANE Select | NP_000517.3:n.1274+37dup |