dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102876898G>T , CM000672.2:g.102876898G>T | GRCh38 |
| NC_000010.10:g.104636655G>T , CM000672.1:g.104636655G>T | GRCh37 |
| NC_000010.9:g.104626645G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369880.8:c.529-56G>T (AS3MT) MANE Select | ENSP00000358896.3:n.529-56G>T | |
| ENST00000299353.6:c.*536-56G>T (BORCS7-ASMT) | ENSP00000299353.5:n.*536-56G>T | |
| ENST00000369880.7:c.529-56G>T (AS3MT) | ENSP00000358896.3:n.529-56G>T | |
| ENST00000615257.1:c.529-56G>T (AS3MT) | ENSP00000479361.1:n.529-56G>T | |
| NM_020682.3:c.529-56G>T (AS3MT) | NP_065733.2:n.529-56G>T | |
| NR_037644.1:n.934-56G>T (BORCS7-ASMT) | ||
| NM_020682.4:c.529-56G>T (AS3MT) MANE Select | NP_065733.2:n.529-56G>T |