Linked Data
dbSNP Id:
rs1354200394
gnomAD v2:
11-61159875-C-A
gnomAD v3:
11-61392403-C-A
gnomAD v4:
11-61392403-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61392403C>A , CM000673.2:g.61392403C>A | GRCh38 |
| NC_000011.9:g.61159875C>A , CM000673.1:g.61159875C>A | GRCh37 |
| NC_000011.8:g.60916451C>A | NCBI36 |
| NG_032976.1:g.5044C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334888.9:c.-229C>A | ENSP00000334844.5:n.-229C>A | |
| ENST00000398979.7:c.-426C>A | ENSP00000381950.3:n.-426C>A | |
| ENST00000515837.6:c.-229C>A | ENSP00000440638.1:n.-229C>A | |
| NM_001173990.2:c.-229C>A | NP_001167461.1:n.-229C>A | |
| NM_001173991.2:c.-229C>A | NP_001167462.1:n.-229C>A | |
| NM_016499.5:c.-426C>A | NP_057583.2:n.-426C>A | |
| XM_005274039.3:c.-560C>A | XP_005274096.1:n.-560C>A | |
| NM_001330285.1:c.-426C>A | NP_001317214.1:n.-426C>A | |
| XM_005274039.4:c.-560C>A | XP_005274096.1:n.-560C>A |