Linked Data
dbSNP Id:
rs1169739134
gnomAD v2:
12-13715384-G-GAGCTCTTCCACACCA
gnomAD v3:
12-13562450-G-GAGCTCTTCCACACCA
gnomAD v4:
12-13562450-G-GAGCTCTTCCACACCA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.13562451_13562465dup , CM000674.2:g.13562451_13562465dup | GRCh38 |
| NC_000012.11:g.13715385_13715399dup , CM000674.1:g.13715385_13715399dup | GRCh37 |
| NC_000012.10:g.13606652_13606666dup | NCBI36 |
| NG_031854.1:g.422624_422638dup | |
| NG_031854.2:g.424548_424562dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000609686.4:c.*318_*332dup MANE Select | ENSP00000477455.1:n.*318_*332dup | |
| ENST00000637214.1:c.69+46138_69+46152dup | ENSP00000489997.1:n.69+46138_69+46152dup | |
| ENST00000609686.3:c.*318_*332dup | ENSP00000477455.1:n.*318_*332dup | |
| NM_000834.3:c.*318_*332dup | NP_000825.2:n.*318_*332dup | |
| XM_005253351.2:c.*318_*332dup | XP_005253408.1:n.*318_*332dup | |
| XM_011520628.1:c.*318_*332dup | XP_011518930.1:n.*318_*332dup | |
| XM_011520629.1:c.*318_*332dup | XP_011518931.1:n.*318_*332dup | |
| XM_011520630.1:c.*318_*332dup | XP_011518932.1:n.*318_*332dup | |
| NM_000834.4:c.*318_*332dup | NP_000825.2:n.*318_*332dup | |
| XM_005253351.3:c.*318_*332dup | XP_005253408.1:n.*318_*332dup | |
| XM_011520628.2:c.*318_*332dup | XP_011518930.1:n.*318_*332dup | |
| XM_011520629.2:c.*318_*332dup | XP_011518931.1:n.*318_*332dup | |
| XM_017019219.2:c.*318_*332dup | XP_016874708.1:n.*318_*332dup | |
| NM_000834.5:c.*318_*332dup MANE Select | NP_000825.2:n.*318_*332dup |