Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61392497T>C , CM000673.2:g.61392497T>C | GRCh38 |
| NC_000011.9:g.61159969T>C , CM000673.1:g.61159969T>C | GRCh37 |
| NC_000011.8:g.60916545T>C | NCBI36 |
| NG_032976.1:g.5138T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001173990.2:c.-135T>C | NP_001167461.1:n.-135T>C |
| NM_001173991.2:c.-135T>C | NP_001167462.1:n.-135T>C |
| NM_001330285.1:c.-332T>C | NP_001317214.1:n.-332T>C |
| NM_016499.5:c.-332T>C | NP_057583.2:n.-332T>C |
| ENST00000334888.9:c.-135T>C | ENSP00000334844.5:n.-135T>C |
| ENST00000398979.7:c.-332T>C | ENSP00000381950.3:n.-332T>C |
| ENST00000515837.6:c.-135T>C | ENSP00000440638.1:n.-135T>C |
| XM_005274039.3:c.-466T>C | XP_005274096.1:n.-466T>C |
| XM_005274039.4:c.-466T>C | XP_005274096.1:n.-466T>C |