Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.224585255G>A , CM000664.2:g.224585255G>A | GRCh38 |
| NC_000002.11:g.225449972G>A , CM000664.1:g.225449972G>A | GRCh37 |
| NC_000002.10:g.225158216G>A | NCBI36 |
| NG_032169.1:g.5143C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003590.5:c.-246C>T MANE Select | NP_003581.1:n.-246C>T |
| ENST00000264414.9:c.-246C>T MANE Select | ENSP00000264414.4:n.-246C>T |
| NM_001257197.1:c.-246C>T | NP_001244126.1:n.-246C>T |
| NM_001257197.2:c.-246C>T | NP_001244126.1:n.-246C>T |
| NM_003590.4:c.-246C>T | NP_003581.1:n.-246C>T |
| ENST00000264414.8:c.-246C>T | ENSP00000264414.4:n.-246C>T |
| ENST00000344951.8:c.-246C>T | ENSP00000343601.4:n.-246C>T |