Linked Data
dbSNP Id:
rs1948553819
gnomAD v3:
12-13562167-C-CCACTATCGAGTCT
gnomAD v4:
12-13562167-C-CCACTATCGAGTCT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.13562170_13562182dup , CM000674.2:g.13562170_13562182dup | GRCh38 |
| NC_000012.11:g.13715104_13715116dup , CM000674.1:g.13715104_13715116dup | GRCh37 |
| NC_000012.10:g.13606371_13606383dup | NCBI36 |
| NG_031854.1:g.422909_422921dup | |
| NG_031854.2:g.424833_424845dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609686.4:c.*603_*615dup MANE Select | ENSP00000477455.1:n.*603_*615dup | |
| ENST00000636207.1:n.54+58_54+70dup | ||
| ENST00000637214.1:c.69+46423_69+46435dup | ENSP00000489997.1:n.69+46423_69+46435dup | |
| ENST00000609686.3:c.*603_*615dup | ENSP00000477455.1:n.*603_*615dup | |
| NM_000834.3:c.*603_*615dup | NP_000825.2:n.*603_*615dup | |
| XM_005253351.2:c.*603_*615dup | XP_005253408.1:n.*603_*615dup | |
| XM_011520628.1:c.*603_*615dup | XP_011518930.1:n.*603_*615dup | |
| XM_011520629.1:c.*603_*615dup | XP_011518931.1:n.*603_*615dup | |
| XM_011520630.1:c.*603_*615dup | XP_011518932.1:n.*603_*615dup | |
| NM_000834.4:c.*603_*615dup | NP_000825.2:n.*603_*615dup | |
| XM_005253351.3:c.*603_*615dup | XP_005253408.1:n.*603_*615dup | |
| XM_011520628.2:c.*603_*615dup | XP_011518930.1:n.*603_*615dup | |
| XM_011520629.2:c.*603_*615dup | XP_011518931.1:n.*603_*615dup | |
| XM_017019219.2:c.*603_*615dup | XP_016874708.1:n.*603_*615dup | |
| NM_000834.5:c.*603_*615dup MANE Select | NP_000825.2:n.*603_*615dup |