Linked Data
gnomAD v4:
11-61392373-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61392373G>A , CM000673.2:g.61392373G>A | GRCh38 |
| NC_000011.9:g.61159845G>A , CM000673.1:g.61159845G>A | GRCh37 |
| NC_000011.8:g.60916421G>A | NCBI36 |
| NG_032976.1:g.5014G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334888.9:c.-259G>A | ENSP00000334844.5:n.-259G>A | |
| ENST00000515837.6:c.-259G>A | ENSP00000440638.1:n.-259G>A | |
| NM_001173990.2:c.-259G>A | NP_001167461.1:n.-259G>A | |
| NM_001173991.2:c.-259G>A | NP_001167462.1:n.-259G>A | |
| XM_005274039.3:c.-590G>A | XP_005274096.1:n.-590G>A | |
| NM_001330285.1:c.-456G>A | NP_001317214.1:n.-456G>A | |
| XM_005274039.4:c.-590G>A | XP_005274096.1:n.-590G>A |