Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61392546G>A , CM000673.2:g.61392546G>A | GRCh38 |
| NC_000011.9:g.61160018G>A , CM000673.1:g.61160018G>A | GRCh37 |
| NC_000011.8:g.60916594G>A | NCBI36 |
| NG_032976.1:g.5187G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001173990.2:c.-86G>A | NP_001167461.1:n.-86G>A |
| NM_001173991.2:c.-86G>A | NP_001167462.1:n.-86G>A |
| NM_001330285.1:c.-283G>A | NP_001317214.1:n.-283G>A |
| NM_016499.5:c.-283G>A | NP_057583.2:n.-283G>A |
| ENST00000334888.9:c.-86G>A | ENSP00000334844.5:n.-86G>A |
| ENST00000398979.7:c.-283G>A | ENSP00000381950.3:n.-283G>A |
| ENST00000515837.6:c.-86G>A | ENSP00000440638.1:n.-86G>A |
| XM_005274039.3:c.-417G>A | XP_005274096.1:n.-417G>A |
| XM_005274039.4:c.-417G>A | XP_005274096.1:n.-417G>A |