Linked Data
dbSNP Id:
rs1233169928
gnomAD v3:
1-114677757-G-GCTCCCTCC
gnomAD v4:
1-114677757-G-GCTCCCTCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114677768_114677775dup , CM000663.2:g.114677768_114677775dup | GRCh38 |
| NC_000001.10:g.115220389_115220396dup , CM000663.1:g.115220389_115220396dup | GRCh37 |
| NC_000001.9:g.115021912_115021919dup | NCBI36 |
| NG_008012.1:g.22791_22798dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369538.4:c.1212+145_1212+152dup | ENSP00000358551.4:n.1212+145_1212+152dup | |
| ENST00000520113.7:c.1224+145_1224+152dup MANE Select | ENSP00000430075.3:n.1224+145_1224+152dup | |
| ENST00000637080.1:c.1007+145_1007+152dup | ENSP00000489753.1:n.1007+145_1007+152dup | |
| ENST00000639077.1:n.889+145_889+152dup | ||
| ENST00000369538.3:c.1311+145_1311+152dup | ENSP00000358551.3:n.1311+145_1311+152dup | |
| ENST00000520113.6:c.1323+145_1323+152dup | ENSP00000430075.2:n.1323+145_1323+152dup | |
| NM_000036.2:c.1323+145_1323+152dup | NP_000027.2:n.1323+145_1323+152dup | |
| NM_001172626.1:c.1311+145_1311+152dup | NP_001166097.1:n.1311+145_1311+152dup | |
| NM_000036.3:c.1224+145_1224+152dup MANE Select | NP_000027.3:n.1224+145_1224+152dup | |
| NM_001172626.2:c.1212+145_1212+152dup | NP_001166097.2:n.1212+145_1212+152dup |