Revel Score:
ENST00000369880 (MANE Select)
0.028
gnomAD v4:
Joint Max Group AF
0.00000247 (NFE)
Exomes Max Group AF
0.00000262 (NFE)
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102872497A>G , CM000672.2:g.102872497A>G | GRCh38 |
| NC_000010.10:g.104632254A>G , CM000672.1:g.104632254A>G | GRCh37 |
| NC_000010.9:g.104622244A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369880.8:c.220A>G (AS3MT) MANE Select | ENSP00000358896.3:p.Ile74Val | |
| ENST00000299353.6:c.*227A>G (BORCS7-ASMT) | ENSP00000299353.5:n.*227A>G | |
| ENST00000369880.7:c.220A>G (AS3MT) | ENSP00000358896.3:p.Ile74Val | |
| ENST00000615257.1:c.220A>G (AS3MT) | ENSP00000479361.1:p.Ile74Val | |
| NM_020682.3:c.220A>G (AS3MT) | NP_065733.2:p.Ile74Val | |
| NR_037644.1:n.625A>G (BORCS7-ASMT) | ||
| NM_020682.4:c.220A>G (AS3MT) MANE Select | NP_065733.2:p.Ile74Val |