Linked Data
dbSNP Id:
rs1365509974
gnomAD v3:
19-12647853-G-GGCGGGGCTGAAGCC
gnomAD v4:
19-12647853-G-GGCGGGGCTGAAGCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12647863_12647876dup , CM000681.2:g.12647863_12647876dup | GRCh38 |
| NC_000019.9:g.12758677_12758690dup , CM000681.1:g.12758677_12758690dup | GRCh37 |
| NC_000019.8:g.12619677_12619690dup | NCBI36 |
| NG_008318.1:g.23911_23924dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456935.7:c.2665-269_2665-256dup MANE Select | ENSP00000395473.2:n.2665-269_2665-256dup | |
| ENST00000221363.8:c.2662-269_2662-256dup | ENSP00000221363.4:n.2662-269_2662-256dup | |
| ENST00000456935.6:c.2665-269_2665-256dup | ENSP00000395473.2:n.2665-269_2665-256dup | |
| ENST00000466794.5:n.3255-269_3255-256dup | ||
| ENST00000597692.1:c.224-269_224-256dup | ||
| NM_000528.3:c.2665-269_2665-256dup | NP_000519.2:n.2665-269_2665-256dup | |
| NM_001173498.1:c.2662-269_2662-256dup | NP_001166969.1:n.2662-269_2662-256dup | |
| XM_005259913.1:c.2668-269_2668-256dup | XP_005259970.1:n.2668-269_2668-256dup | |
| XM_011528017.1:c.1564-269_1564-256dup | XP_011526319.1:n.1564-269_1564-256dup | |
| XM_005259913.2:c.2668-269_2668-256dup | XP_005259970.1:n.2668-269_2668-256dup | |
| XM_024451518.1:c.1564-269_1564-256dup | XP_024307286.1:n.1564-269_1564-256dup | |
| NM_000528.4:c.2665-269_2665-256dup MANE Select | NP_000519.2:n.2665-269_2665-256dup | |
| NM_001173498.2:c.2662-269_2662-256dup | NP_001166969.1:n.2662-269_2662-256dup |