Linked Data
dbSNP Id:
rs1440396681
gnomAD v2:
4-72622350-T-TC
gnomAD v3:
4-71756633-T-TC
gnomAD v4:
4-71756633-T-TC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.71756636dup , CM000666.2:g.71756636dup | GRCh38 |
| NC_000004.11:g.72622353dup , CM000666.1:g.72622353dup | GRCh37 |
| NC_000004.10:g.72841217dup | NCBI36 |
| NG_012837.2:g.53887dup | |
| NG_012837.3:g.53887dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000273951.13:c.1034+78dup MANE Select | ENSP00000273951.8:n.1034+78dup | |
| ENST00000273951.12:c.1034+78dup | ENSP00000273951.8:n.1034+78dup | |
| ENST00000503472.5:n.918+78dup | ||
| ENST00000504199.5:c.1091+78dup | ENSP00000421725.1:n.1091+78dup | |
| ENST00000509740.5:c.1034+78dup | ENSP00000422664.1:n.1034+78dup | |
| ENST00000513476.5:c.1034+78dup | ENSP00000426683.1:n.1034+78dup | |
| NM_000583.3:c.1034+78dup | NP_000574.2:n.1034+78dup | |
| NM_001204306.1:c.1034+78dup | NP_001191235.1:n.1034+78dup | |
| NM_001204307.1:c.1091+78dup | NP_001191236.1:n.1091+78dup | |
| XM_006714177.2:c.1034+78dup | XP_006714240.1:n.1034+78dup | |
| XM_006714177.3:c.1034+78dup | XP_006714240.1:n.1034+78dup | |
| NM_000583.4:c.1034+78dup MANE Select | NP_000574.2:n.1034+78dup |