Linked Data
ClinVar Variation Id:
1296552
ClinVar RCV Id:
RCV001724420
dbSNP Id:
rs115290821
gnomAD v2:
X-114844912-G-T
gnomAD v3:
X-115610600-G-T
gnomAD v4:
X-115610600-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.115610600G>T , CM000685.2:g.115610600G>T | GRCh38 |
| NC_000023.10:g.114844912G>T , CM000685.1:g.114844912G>T | GRCh37 |
| NC_000023.9:g.114751168G>T | NCBI36 |
| NG_012518.2:g.54722G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355899.8:c.73+277G>T MANE Select | ENSP00000348163.3:n.73+277G>T | |
| ENST00000289290.7:c.-112-203G>T | ENSP00000289290.4:n.-112-203G>T | |
| ENST00000355899.7:c.73+277G>T | ENSP00000348163.3:n.73+277G>T | |
| ENST00000473026.6:c.73+277G>T | ENSP00000475900.1:n.73+277G>T | |
| ENST00000481823.5:c.73+277G>T | ENSP00000419051.1:n.73+277G>T | |
| ENST00000489283.5:c.73+277G>T | ENSP00000420458.1:n.73+277G>T | |
| ENST00000539310.5:c.73+277G>T | ENSP00000445339.2:n.73+277G>T | |
| ENST00000626746.2:c.73+277G>T | ENSP00000487343.1:n.73+277G>T | |
| NM_001136025.4:c.73+277G>T | NP_001129497.1:n.73+277G>T | |
| NM_001172335.2:c.73+277G>T | NP_001165806.1:n.73+277G>T | |
| NM_001282337.1:c.-112-203G>T | NP_001269266.1:n.-112-203G>T | |
| NM_001282338.1:c.-445+277G>T | NP_001269267.1:n.-445+277G>T | |
| NM_005032.6:c.73+277G>T | NP_005023.2:n.73+277G>T | |
| XM_011537534.1:c.73+277G>T | XP_011535836.1:n.73+277G>T | |
| NM_005032.7:c.73+277G>T MANE Select | NP_005023.2:n.73+277G>T | |
| NM_001136025.5:c.73+277G>T | NP_001129497.1:n.73+277G>T | |
| NM_001172335.3:c.73+277G>T | NP_001165806.1:n.73+277G>T | |
| NM_001282337.2:c.-112-203G>T | NP_001269266.1:n.-112-203G>T | |
| NM_001282338.2:c.-445+277G>T | NP_001269267.1:n.-445+277G>T |