Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.96160778G>A , CM000670.2:g.96160778G>A | GRCh38 |
| NC_000008.10:g.97173006G>A , CM000670.1:g.97173006G>A | GRCh37 |
| NC_000008.9:g.97242182G>A | NCBI36 |
| NG_008981.1:g.5015C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001001557.4:c.-86C>T MANE Select | NP_001001557.1:n.-86C>T |
| ENST00000287020.7:c.-86C>T MANE Select | ENSP00000287020.4:n.-86C>T |
| NM_001001557.2:c.-86C>T | NP_001001557.1:n.-86C>T |
| NM_001001557.3:c.-86C>T | NP_001001557.1:n.-86C>T |
| ENST00000287020.6:c.-86C>T | ENSP00000287020.4:n.-86C>T |