Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102901727T>C , CM000672.2:g.102901727T>C | GRCh38 |
| NC_000010.10:g.104661484T>C , CM000672.1:g.104661484T>C | GRCh37 |
| NC_000010.9:g.104651474T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NM_020682.3:c.*1027T>C (AS3MT) VV | NP_065733.2:p.= | |
| NR_037644.1:n.2560T>C (BORCS7-ASMT) | ||
| XM_017017027.1:c.447-1217A>G | XP_016872516.1:p.= | |
| XR_001747577.1:n.169-1217A>G | ||
| XR_001747578.1:n.345-1217A>G | ||
| NM_020682.4:c.*1027T>C (AS3MT) VV | NP_065733.2:p.= | |
| NR_160733.1:n.169-1217A>G | ||
| ENST00000299353.6:c.*2162T>C | ENSP00000299353.5:p.= | |
| ENST00000369880.7:c.*1027T>C | ENSP00000358896.3:p.= | |
| ENST00000615257.1:c.*462T>C | ENSP00000479361.1:p.= |