Linked Data
dbSNP Id:
rs760939945
ExAC:
17:45360675 C / CAT
gnomAD v2:
17-45360675-C-CAT
gnomAD v4:
17-47283309-C-CAT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47283311_47283312dup , CM000679.2:g.47283311_47283312dup | GRCh38 |
| NC_000017.10:g.45360677_45360678dup , CM000679.1:g.45360677_45360678dup | GRCh37 |
| NC_000017.9:g.42715676_42715677dup | NCBI36 |
| NG_008332.2:g.34470_34471dup , LRG_481:g.34470_34471dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696963.1:c.166-43_166-42dup | ENSP00000513002.1:n.166-43_166-42dup | |
| ENST00000559488.7:c.166-43_166-42dup MANE Select | ENSP00000452786.2:n.166-43_166-42dup | |
| ENST00000559488.5:c.166-43_166-42dup | ENSP00000452786.1:n.166-43_166-42dup | |
| ENST00000560629.1:c.131-43_131-42dup | ||
| ENST00000571680.1:c.166-43_166-42dup | ENSP00000461626.1:n.166-43_166-42dup | |
| NM_000212.2:c.166-43_166-42dup , LRG_481t1:c.166-43_166-42dup | NP_000203.2:n.166-43_166-42dup | |
| NM_000212.3:c.166-43_166-42dup MANE Select | NP_000203.2:n.166-43_166-42dup |