Linked Data
ClinVar Variation Id:
305075
dbSNP Id:
rs557559653
gnomAD v2:
11-61160013-G-A
gnomAD v3:
11-61392541-G-A
gnomAD v4:
11-61392541-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61392541G>A , CM000673.2:g.61392541G>A | GRCh38 |
| NC_000011.9:g.61160013G>A , CM000673.1:g.61160013G>A | GRCh37 |
| NC_000011.8:g.60916589G>A | NCBI36 |
| NG_032976.1:g.5182G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334888.9:c.-91G>A | ENSP00000334844.5:n.-91G>A | |
| ENST00000398979.7:c.-288G>A | ENSP00000381950.3:n.-288G>A | |
| ENST00000515837.6:c.-91G>A | ENSP00000440638.1:n.-91G>A | |
| NM_001173990.2:c.-91G>A | NP_001167461.1:n.-91G>A | |
| NM_001173991.2:c.-91G>A | NP_001167462.1:n.-91G>A | |
| NM_016499.5:c.-288G>A | NP_057583.2:n.-288G>A | |
| XM_005274039.3:c.-422G>A | XP_005274096.1:n.-422G>A | |
| NM_001330285.1:c.-288G>A | NP_001317214.1:n.-288G>A | |
| XM_005274039.4:c.-422G>A | XP_005274096.1:n.-422G>A |