Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102878966T= , CM000672.2:g.102878966T= | GRCh38 |
| NC_000010.10:g.104638723T= , CM000672.1:g.104638723T= | GRCh37 |
| NC_000010.9:g.104628713T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020682.4:c.860T= (AS3MT) MANE Select | NP_065733.2:p.Met287= |
| ENST00000369880.8:c.860T= (AS3MT) MANE Select | ENSP00000358896.3:p.Met287= |
| NM_020682.3:c.860T= (AS3MT) | NP_065733.2:p.Met287= |
| NR_037644.1:n.1265T= (BORCS7-ASMT) | |
| ENST00000299353.6:c.*867T= (BORCS7-ASMT) | ENSP00000299353.5:n.*867T= |
| ENST00000369880.7:c.860T= (AS3MT) | ENSP00000358896.3:p.Met287= |
| ENST00000615257.1:c.860T= (AS3MT) | ENSP00000479361.1:p.Met287= |