Linked Data
dbSNP Id:
rs748056844
ExAC:
5:179260571 G / GT
gnomAD v2:
5-179260571-G-GT
gnomAD v4:
5-179833571-G-GT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.179833572dup , CM000667.2:g.179833572dup | GRCh38 |
| NC_000005.9:g.179260572dup , CM000667.1:g.179260572dup | GRCh37 |
| NC_000005.8:g.179193178dup | NCBI36 |
| NG_011342.1:g.32185dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389805.9:c.970-15dup MANE Select | ENSP00000374455.4:n.970-15dup | |
| ENST00000360718.5:c.718-15dup | ENSP00000353944.5:n.718-15dup | |
| ENST00000389805.8:c.970-15dup | ENSP00000374455.4:n.970-15dup | |
| ENST00000510187.5:c.950+345dup | ENSP00000424477.1:n.950+345dup | |
| NM_001142298.1:c.718-15dup | NP_001135770.1:n.718-15dup | |
| NM_001142299.1:c.718-15dup | NP_001135771.1:n.718-15dup | |
| NM_003900.4:c.970-15dup | NP_003891.1:n.970-15dup | |
| XM_017010010.1:c.718-15dup | XP_016865499.1:n.718-15dup | |
| NM_003900.5:c.970-15dup MANE Select | NP_003891.1:n.970-15dup | |
| NM_001142298.2:c.718-15dup | NP_001135770.1:n.718-15dup | |
| NM_001142299.2:c.718-15dup | NP_001135771.1:n.718-15dup |