Linked Data
dbSNP Id:
rs2081908387
gnomAD v3:
19-40682146-G-GATGGAGTTTAGCTCTTGTTGCC
gnomAD v4:
19-40682146-G-GATGGAGTTTAGCTCTTGTTGCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40682147_40682168dup , CM000681.2:g.40682147_40682168dup | GRCh38 |
| NC_000019.9:g.41188052_41188073dup , CM000681.1:g.41188052_41188073dup | GRCh37 |
| NC_000019.8:g.45879892_45879913dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252891.8:c.399+560_399+581dup MANE Select | ENSP00000252891.3:n.399+560_399+581dup | |
| ENST00000540131.5:c.276+560_276+581dup | ENSP00000442759.1:n.276+560_276+581dup | |
| ENST00000593367.1:n.128+560_128+581dup | ||
| ENST00000595741.5:c.276+560_276+581dup | ENSP00000470794.1:n.276+560_276+581dup | |
| ENST00000598773.5:c.276+560_276+581dup | ENSP00000469736.1:n.276+560_276+581dup | |
| ENST00000598779.5:c.276+560_276+581dup | ENSP00000472400.1:n.276+560_276+581dup | |
| ENST00000599786.1:n.689+560_689+581dup | ||
| ENST00000600636.5:c.276+560_276+581dup | ENSP00000471376.1:n.276+560_276+581dup | |
| ENST00000600967.5:c.106+560_106+581dup | ||
| NM_001289979.1:c.276+560_276+581dup | NP_001276908.1:n.276+560_276+581dup | |
| NM_001289980.1:c.276+560_276+581dup | NP_001276909.1:n.276+560_276+581dup | |
| NM_004756.4:c.399+560_399+581dup | NP_004747.1:n.399+560_399+581dup | |
| XM_011527489.1:c.276+560_276+581dup | XP_011525791.1:n.276+560_276+581dup | |
| XM_011527490.1:c.276+560_276+581dup | XP_011525792.1:n.276+560_276+581dup | |
| XR_935869.1:n.357+560_357+581dup | ||
| NM_001289980.2:c.276+560_276+581dup | NP_001276909.1:n.276+560_276+581dup | |
| NM_004756.5:c.399+560_399+581dup MANE Select | NP_004747.1:n.399+560_399+581dup | |
| NM_001289979.2:c.276+560_276+581dup | NP_001276908.1:n.276+560_276+581dup |