Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.100357146T>C , CM000674.2:g.100357146T>C | GRCh38 |
| NC_000012.11:g.100750924T>C , CM000674.1:g.100750924T>C | GRCh37 |
| NC_000012.10:g.99275055T>C | NCBI36 |
| NG_021175.1:g.5068T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_139319.3:c.-246T>C MANE Select | NP_647480.1:n.-246T>C |
| ENST00000323346.10:c.-246T>C MANE Select | ENSP00000316909.4:n.-246T>C |
| NM_001145288.1:c.-246T>C | NP_001138760.1:n.-246T>C |
| NM_001145288.2:c.-246T>C | NP_001138760.1:n.-246T>C |
| NM_139319.2:c.-246T>C | NP_647480.1:n.-246T>C |
| ENST00000323346.9:c.-246T>C | ENSP00000316909.4:n.-246T>C |