Linked Data
dbSNP Id:
rs751054007
ExAC:
1:40539696 A / AG
gnomAD v2:
1-40539696-A-AG
gnomAD v3:
1-40074024-A-AG
gnomAD v4:
1-40074024-A-AG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40074028dup , CM000663.2:g.40074028dup | GRCh38 |
| NC_000001.10:g.40539700dup , CM000663.1:g.40539700dup | GRCh37 |
| NC_000001.9:g.40312287dup | NCBI36 |
| NG_009192.1:g.28446dup , LRG_690:g.28446dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433473.8:c.*36dup | ENSP00000394863.4:n.*36dup | |
| ENST00000439754.6:c.*36dup | ENSP00000403207.2:n.*36dup | |
| ENST00000449045.7:c.*36dup | ENSP00000392293.2:n.*36dup | |
| ENST00000530076.6:c.*36dup | ENSP00000434007.1:n.*36dup | |
| ENST00000530704.6:c.*580dup | ENSP00000431655.1:n.*580dup | |
| ENST00000641083.1:c.1047dup | ||
| ENST00000641236.1:n.1194dup | ||
| ENST00000641319.1:c.*167dup | ENSP00000493128.1:n.*167dup | |
| ENST00000641381.1:c.379dup | ||
| ENST00000641471.1:c.*36dup | ENSP00000493146.1:n.*36dup | |
| ENST00000641691.1:c.*809dup | ENSP00000492910.1:n.*809dup | |
| ENST00000641924.1:c.*386dup | ENSP00000493063.1:n.*386dup | |
| ENST00000642050.2:c.*36dup MANE Select | ENSP00000493153.1:n.*36dup | |
| ENST00000372775.2:n.354dup | ||
| ENST00000433473.7:c.*36dup | ENSP00000394863.3:n.*36dup | |
| ENST00000439754.5:c.570dup | ENSP00000403207.1:n.570dup | |
| ENST00000449045.6:c.*36dup | ENSP00000392293.2:n.*36dup | |
| ENST00000529905.5:c.*36dup | ENSP00000432053.1:n.*36dup | |
| ENST00000530704.5:c.*580dup | ENSP00000431655.1:n.*580dup | |
| NM_000310.3:c.*36dup , LRG_690t1:c.*36dup | NP_000301.1:n.*36dup | |
| NM_001142604.1:c.*36dup | NP_001136076.1:n.*36dup | |
| XM_005271008.1:c.*36dup | XP_005271065.1:n.*36dup | |
| NM_001363695.1:c.*36dup | NP_001350624.1:n.*36dup | |
| NM_000310.4:c.*36dup MANE Select | NP_000301.1:n.*36dup | |
| NM_001142604.2:c.*36dup | NP_001136076.1:n.*36dup | |
| NM_001363695.2:c.*36dup | NP_001350624.1:n.*36dup |