Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32443193G= , CM000668.2:g.32443193G= | GRCh38 |
| NC_000006.11:g.32410970G= , CM000668.1:g.32410970G= | GRCh37 |
| NC_000006.10:g.32518948G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_019111.5:c.337G= MANE Select | NP_061984.2:p.Glu113= |
| ENST00000395388.7:c.337G= MANE Select | ENSP00000378786.2:p.Glu113= |
| NM_019111.4:c.337G= | NP_061984.2:p.Glu113= |
| ENST00000374982.5:c.329-67G= | ENSP00000364121.5:n.329-67G= |
| ENST00000395388.6:c.337G= | ENSP00000378786.2:p.Glu113= |