Linked Data
ClinVar Variation Id:
214843
dbSNP Id:
rs200417926
ExAC:
11:67378053 C / T
gnomAD v2:
11-67378053-C-T
gnomAD v3:
11-67610582-C-T
gnomAD v4:
11-67610582-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67610582C>T , CM000673.2:g.67610582C>T | GRCh38 |
| NC_000011.9:g.67378053C>T , CM000673.1:g.67378053C>T | GRCh37 |
| NC_000011.8:g.67134629C>T | NCBI36 |
| NG_013353.1:g.8731C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322776.11:c.700+12C>T MANE Select | ENSP00000322450.6:n.700+12C>T | |
| ENST00000647561.1:c.700+12C>T | ENSP00000497587.1:n.700+12C>T | |
| ENST00000322776.10:c.700+12C>T | ENSP00000322450.6:n.700+12C>T | |
| ENST00000415352.6:c.679+12C>T | ENSP00000395368.2:n.679+12C>T | |
| ENST00000526169.1:n.442+12C>T | ||
| ENST00000526770.5:n.571C>T | ||
| ENST00000529927.5:c.673+12C>T | ENSP00000436766.1:n.673+12C>T | |
| ENST00000532244.5:c.409C>T | ||
| ENST00000532303.5:c.397+12C>T | ENSP00000432015.1:n.397+12C>T | |
| ENST00000533919.5:c.178+12C>T | ENSP00000435199.1:n.178+12C>T | |
| NM_001166102.1:c.673+12C>T | NP_001159574.1:n.673+12C>T | |
| NM_007103.3:c.700+12C>T | NP_009034.2:n.700+12C>T | |
| NM_001166102.2:c.673+12C>T | NP_001159574.1:n.673+12C>T | |
| NM_007103.4:c.700+12C>T MANE Select | NP_009034.2:n.700+12C>T |