Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40784075C>T , CM000663.2:g.40784075C>T | GRCh38 |
| NC_000001.10:g.41249747C>T , CM000663.1:g.41249747C>T | GRCh37 |
| NC_000001.9:g.41022334C>T | NCBI36 |
| NG_008139.1:g.5064C>T | |
| NG_008139.2:g.5064C>T | |
| NG_008139.3:g.5289C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347132.10:c.-19C>T MANE Select | ENSP00000262916.6:n.-19C>T | |
| ENST00000347132.9:c.-19C>T | ENSP00000262916.6:n.-19C>T | |
| NM_004700.3:c.-19C>T | NP_004691.2:n.-19C>T | |
| NM_172163.2:c.-19C>T | NP_751895.1:n.-19C>T | |
| NM_004700.4:c.-19C>T MANE Select | NP_004691.2:n.-19C>T | |
| NM_172163.3:c.-19C>T | NP_751895.1:n.-19C>T |