Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.170907700C>T , CM000665.2:g.170907700C>T | GRCh38 |
| NC_000003.11:g.170625489C>T , CM000665.1:g.170625489C>T | GRCh37 |
| NC_000003.10:g.172108183C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020390.6:c.107G>A MANE Select | NP_065123.1:p.Arg36Gln |
| ENST00000295822.7:c.107G>A MANE Select | ENSP00000295822.2:p.Arg36Gln |
| NM_020390.5:c.107G>A | NP_065123.1:p.Arg36Gln |
| ENST00000295822.6:c.107G>A | ENSP00000295822.2:p.Arg36Gln |
| ENST00000460117.5:n.102+843G>A | |
| ENST00000474096.5:c.107G>A | ENSP00000418370.1:p.Arg36Gln |
| ENST00000474417.1:c.50G>A | ENSP00000417133.1:p.Arg17Gln |
| ENST00000487522.5:c.107G>A | ENSP00000418305.1:p.Arg36Gln |