Linked Data
dbSNP Id:
rs1295567246
gnomAD v2:
19-12997842-C-CCTAGACCCCACCTT
gnomAD v4:
19-12887028-C-CCTAGACCCCACCTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12887033_12887046dup , CM000681.2:g.12887033_12887046dup | GRCh38 |
| NC_000019.9:g.12997847_12997860dup , CM000681.1:g.12997847_12997860dup | GRCh37 |
| NC_000019.8:g.12858847_12858860dup | NCBI36 |
| NG_009292.1:g.874_887dup | |
| NG_013087.1:g.5162_5175dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264834.6:c.87+12_87+25dup MANE Select | ENSP00000264834.3:n.87+12_87+25dup | |
| ENST00000264834.4:c.87+12_87+25dup | ENSP00000264834.3:n.87+12_87+25dup | |
| NM_006563.3:c.87+12_87+25dup | NP_006554.1:n.87+12_87+25dup | |
| XM_011527642.1:c.-117+12_-117+25dup | XP_011525944.1:n.-117+12_-117+25dup | |
| NM_006563.4:c.87+12_87+25dup | NP_006554.1:n.87+12_87+25dup | |
| XM_011527642.2:c.-117+12_-117+25dup | XP_011525944.1:n.-117+12_-117+25dup | |
| NM_006563.5:c.87+12_87+25dup MANE Select | NP_006554.1:n.87+12_87+25dup |