Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.158508410T>C , CM000668.2:g.158508410T>C | GRCh38 |
| NC_000006.11:g.158929442T>C , CM000668.1:g.158929442T>C | GRCh37 |
| NC_000006.10:g.158849430T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367097.8:c.*1716T>C MANE Select | ENSP00000356064.3:n.*1716T>C | |
| ENST00000367097.7:c.*1716T>C | ENSP00000356064.3:n.*1716T>C | |
| NM_001007466.2:c.*1810T>C | NP_001007467.1:n.*1810T>C | |
| NM_020245.4:c.*1716T>C | NP_064630.2:n.*1716T>C | |
| XM_011535946.1:c.*1716T>C | XP_011534248.1:n.*1716T>C | |
| XM_017011070.1:c.*1716T>C | XP_016866559.1:n.*1716T>C | |
| NM_020245.5:c.*1716T>C MANE Select | NP_064630.2:n.*1716T>C | |
| NM_001007466.3:c.*1810T>C | NP_001007467.1:n.*1810T>C |