Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136687457T>C , CM000671.2:g.136687457T>C | GRCh38 |
| NC_000009.11:g.139581909T>C , CM000671.1:g.139581909T>C | GRCh37 |
| NC_000009.10:g.138701730T>C | NCBI36 |
| NG_008090.1:g.5003A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371696.7:c.-100A>G MANE Select | ENSP00000360761.2:n.-100A>G | |
| NM_001012727.1:c.-100A>G | NP_001012745.1:n.-100A>G | |
| NM_006412.3:c.-100A>G | NP_006403.2:n.-100A>G | |
| NM_006412.4:c.-100A>G MANE Select | NP_006403.2:n.-100A>G | |
| NM_001012727.2:c.-100A>G | NP_001012745.1:n.-100A>G |