Linked Data
ClinVar Variation Id:
303342
dbSNP Id:
rs28372748
gnomAD v2:
11-124805969-C-A
gnomAD v3:
11-124936073-C-A
gnomAD v4:
11-124936073-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.124936073C>A , CM000673.2:g.124936073C>A | GRCh38 |
| NC_000011.9:g.124805969C>A , CM000673.1:g.124805969C>A | GRCh37 |
| NC_000011.8:g.124311179C>A | NCBI36 |
| NG_029603.1:g.5340G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298251.4:c.-67G>T | ENSP00000298251.4:n.-67G>T | |
| ENST00000528971.1:n.340G>T | ||
| NM_152722.4:c.-67G>T | NP_689935.2:n.-67G>T | |
| XM_005271449.1:c.-67G>T | XP_005271506.1:n.-67G>T | |
| XM_006718786.1:c.-67G>T | XP_006718849.1:n.-67G>T | |
| XM_011542669.1:c.-67G>T | XP_011540971.1:n.-67G>T | |
| XM_005271449.2:c.-67G>T | XP_005271506.1:n.-67G>T | |
| XM_017017361.1:c.-67G>T | XP_016872850.1:n.-67G>T | |
| XR_001748429.2:n.325-7327C>A |