Linked Data
dbSNP Id:
rs1853706592
gnomAD v2:
11-34938072-G-A
gnomAD v3:
11-34916525-G-A
gnomAD v4:
11-34916525-G-A
MyVariant Identifiers:
chr11:g.34938072_34938074delinsAGC (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.34916525G>A , CM000673.2:g.34916525G>A | GRCh38 |
| NC_000011.9:g.34938072G>A , CM000673.1:g.34938072G>A | GRCh37 |
| NC_000011.8:g.34894648G>A | NCBI36 |
| NG_013368.1:g.5396G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000448838.8:c.-21+39G>A | ENSP00000389404.3:n.-21+39G>A | |
| ENST00000448838.7:c.115+39G>A | ENSP00000389404.2:n.115+39G>A | |
| ENST00000533550.5:c.-21+587G>A | ENSP00000431281.1:n.-21+587G>A | |
| NM_001135024.1:c.115+39G>A | NP_001128496.1:n.115+39G>A | |
| NM_001166158.1:c.-131G>A | NP_001159630.1:n.-131G>A | |
| NM_003477.2:c.-131G>A | NP_003468.2:n.-131G>A | |
| XM_011520390.1:c.-21+587G>A | XP_011518692.1:n.-21+587G>A | |
| NM_001135024.2:c.-21+39G>A | NP_001128496.2:n.-21+39G>A |