Linked Data
dbSNP Id:
rs1234093874
gnomAD v2:
19-15651142-A-AAT
gnomAD v3:
19-15540331-A-AAT
gnomAD v4:
19-15540331-A-AAT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15540335_15540336dup , CM000681.2:g.15540335_15540336dup | GRCh38 |
| NC_000019.9:g.15651146_15651147dup , CM000681.1:g.15651146_15651147dup | GRCh37 |
| NC_000019.8:g.15512146_15512147dup | NCBI36 |
| NG_007987.1:g.36811_36812dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269703.8:c.672-115_672-114dup MANE Select | ENSP00000269703.1:n.672-115_672-114dup | |
| ENST00000269703.7:c.672-115_672-114dup | ENSP00000269703.1:n.672-115_672-114dup | |
| ENST00000601005.2:c.672-115_672-114dup | ENSP00000469866.1:n.672-115_672-114dup | |
| NM_173483.3:c.672-115_672-114dup | NP_775754.2:n.672-115_672-114dup | |
| XM_011527692.1:c.672-115_672-114dup | XP_011525994.1:n.672-115_672-114dup | |
| XM_011527693.1:c.672-115_672-114dup | XP_011525995.1:n.672-115_672-114dup | |
| XM_011527692.2:c.672-115_672-114dup | XP_011525994.1:n.672-115_672-114dup | |
| XM_011527693.2:c.672-115_672-114dup | XP_011525995.1:n.672-115_672-114dup | |
| NM_173483.4:c.672-115_672-114dup MANE Select | NP_775754.2:n.672-115_672-114dup |