Linked Data
dbSNP Id:
rs10707547
gnomAD v2:
14-50619682-C-CA
gnomAD v3:
14-50152964-C-CA
gnomAD v4:
14-50152964-C-CA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50152976dup , CM000676.2:g.50152976dup | GRCh38 |
| NC_000014.8:g.50619694dup , CM000676.1:g.50619694dup | GRCh37 |
| NC_000014.7:g.49689444dup | NCBI36 |
| NG_051073.1:g.83729dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216373.10:c.2161+105dup MANE Select | ENSP00000216373.5:n.2161+105dup | |
| ENST00000216373.9:c.2161+105dup | ENSP00000216373.5:n.2161+105dup | |
| ENST00000543680.5:c.2062+105dup | ENSP00000445328.1:n.2062+105dup | |
| NM_006939.2:c.2161+105dup | NP_008870.2:n.2161+105dup | |
| XM_005268021.1:c.1981+105dup | XP_005268078.1:n.1981+105dup | |
| XM_011537103.1:c.2122+105dup | XP_011535405.1:n.2122+105dup | |
| XM_011537104.1:c.2161+105dup | XP_011535406.1:n.2161+105dup | |
| NM_006939.3:c.2161+105dup | NP_008870.2:n.2161+105dup | |
| NM_006939.4:c.2161+105dup MANE Select | NP_008870.2:n.2161+105dup |