Linked Data
gnomAD v4:
11-61392477-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61392477A>C , CM000673.2:g.61392477A>C | GRCh38 |
| NC_000011.9:g.61159949A>C , CM000673.1:g.61159949A>C | GRCh37 |
| NC_000011.8:g.60916525A>C | NCBI36 |
| NG_032976.1:g.5118A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334888.9:c.-155A>C | ENSP00000334844.5:n.-155A>C | |
| ENST00000398979.7:c.-352A>C | ENSP00000381950.3:n.-352A>C | |
| ENST00000515837.6:c.-155A>C | ENSP00000440638.1:n.-155A>C | |
| NM_001173990.2:c.-155A>C | NP_001167461.1:n.-155A>C | |
| NM_001173991.2:c.-155A>C | NP_001167462.1:n.-155A>C | |
| NM_016499.5:c.-352A>C | NP_057583.2:n.-352A>C | |
| XM_005274039.3:c.-486A>C | XP_005274096.1:n.-486A>C | |
| NM_001330285.1:c.-352A>C | NP_001317214.1:n.-352A>C | |
| XM_005274039.4:c.-486A>C | XP_005274096.1:n.-486A>C |