Linked Data
ClinVar Variation Id:
898778
dbSNP Id:
rs1190526111
gnomAD v2:
20-34025944-C-T
gnomAD v3:
20-35438164-C-T
gnomAD v4:
20-35438164-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.35438164C>T , CM000682.2:g.35438164C>T | GRCh38 |
| NC_000020.10:g.34025944C>T , CM000682.1:g.34025944C>T | GRCh37 |
| NC_000020.9:g.33489358C>T | NCBI36 |
| NG_008076.2:g.5056G>A | |
| NG_008076.3:g.21583G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374369.8:c.-236G>A MANE Select | ENSP00000363489.3:n.-236G>A | |
| ENST00000374369.7:c.-236G>A | ENSP00000363489.3:n.-236G>A | |
| ENST00000374372.1:c.-236G>A | ENSP00000363492.1:n.-236G>A | |
| NM_000557.4:c.-236G>A | NP_000548.2:n.-236G>A | |
| XM_011529075.1:c.-236G>A | XP_011527377.1:n.-236G>A | |
| XM_011529076.1:c.-236G>A | XP_011527378.1:n.-236G>A | |
| NM_001319138.1:c.-236G>A | NP_001306067.1:n.-236G>A | |
| NM_000557.5:c.-236G>A MANE Select | NP_000548.2:n.-236G>A | |
| NM_001319138.2:c.-236G>A | NP_001306067.1:n.-236G>A |