Linked Data
ClinVar Variation Id:
507252
dbSNP Id:
rs762384715
ExAC:
11:67378054 G / A
gnomAD v2:
11-67378054-G-A
gnomAD v3:
11-67610583-G-A
gnomAD v4:
11-67610583-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67610583G>A , CM000673.2:g.67610583G>A | GRCh38 |
| NC_000011.9:g.67378054G>A , CM000673.1:g.67378054G>A | GRCh37 |
| NC_000011.8:g.67134630G>A | NCBI36 |
| NG_013353.1:g.8732G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322776.11:c.700+13G>A MANE Select | ENSP00000322450.6:n.700+13G>A | |
| ENST00000647561.1:c.700+13G>A | ENSP00000497587.1:n.700+13G>A | |
| ENST00000322776.10:c.700+13G>A | ENSP00000322450.6:n.700+13G>A | |
| ENST00000415352.6:c.679+13G>A | ENSP00000395368.2:n.679+13G>A | |
| ENST00000526169.1:n.442+13G>A | ||
| ENST00000526770.5:n.572G>A | ||
| ENST00000529927.5:c.673+13G>A | ENSP00000436766.1:n.673+13G>A | |
| ENST00000532303.5:c.397+13G>A | ENSP00000432015.1:n.397+13G>A | |
| ENST00000533919.5:c.178+13G>A | ENSP00000435199.1:n.178+13G>A | |
| NM_001166102.1:c.673+13G>A | NP_001159574.1:n.673+13G>A | |
| NM_007103.3:c.700+13G>A | NP_009034.2:n.700+13G>A | |
| NM_001166102.2:c.673+13G>A | NP_001159574.1:n.673+13G>A | |
| NM_007103.4:c.700+13G>A MANE Select | NP_009034.2:n.700+13G>A |