Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32443210A= , CM000668.2:g.32443210A= | GRCh38 |
| NC_000006.11:g.32410987A= , CM000668.1:g.32410987A= | GRCh37 |
| NC_000006.10:g.32518965A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_019111.5:c.354A= MANE Select | NP_061984.2:p.Thr118= |
| ENST00000395388.7:c.354A= MANE Select | ENSP00000378786.2:p.Thr118= |
| NM_019111.4:c.354A= | NP_061984.2:p.Thr118= |
| ENST00000374982.5:c.329-50A= | ENSP00000364121.5:n.329-50A= |
| ENST00000395388.6:c.354A= | ENSP00000378786.2:p.Thr118= |