Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48345108G= , CM000675.2:g.48345108G= | GRCh38 |
| NC_000013.10:g.48919244G= , CM000675.1:g.48919244G= | GRCh37 |
| NC_000013.9:g.47817245G= | NCBI36 |
| NG_009009.1:g.46362G= , LRG_517:g.46362G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000321.3:c.409G= MANE Select | NP_000312.2:p.Glu137= |
| ENST00000267163.6:c.409G= MANE Select | ENSP00000267163.4:p.Glu137= |
| NM_000321.2:c.409G= , LRG_517t1:c.409G= | NP_000312.2:p.Glu137= |
| ENST00000267163.4:c.409G= | ENSP00000267163.4:p.Glu137= |
| ENST00000467505.5:c.138-14909G= | ENSP00000434702.1:n.138-14909G= |
| ENST00000525036.1:n.571G= | |
| ENST00000650461.1:c.409G= | ENSP00000497193.1:p.Glu137= |
| XM_011535171.1:c.148G= | XP_011533473.1:p.Glu50= |
| XM_011535171.2:c.148G= | XP_011533473.1:p.Glu50= |