Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.147410292C= , CM000665.2:g.147410292C= | GRCh38 |
| NC_000003.11:g.147128079C= , CM000665.1:g.147128079C= | GRCh37 |
| NC_000003.10:g.148610769C= | NCBI36 |
| NG_009242.1:g.1329G= | |
| NG_015886.1:g.5899C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003412.4:c.180C= MANE Select | NP_003403.2:p.Gly60= |
| ENST00000282928.5:c.180C= MANE Select | ENSP00000282928.4:p.Gly60= |
| NM_003412.3:c.180C= | NP_003403.2:p.Gly60= |
| ENST00000282928.4:c.180C= | ENSP00000282928.4:p.Gly60= |
| ENST00000472523.1:n.521+16350C= | |
| ENST00000488404.5:c.49-2226C= |