Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.142957921G= , CM000669.2:g.142957921G= | GRCh38 |
| NC_000007.13:g.142655008G= , CM000669.1:g.142655008G= | GRCh37 |
| NC_000007.12:g.142365130G= | NCBI36 |
| NG_007492.1:g.9496C= | |
| NG_007492.2:g.9496C= | |
| NG_007492.3:g.9496C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000420.3:c.578C= MANE Select | NP_000411.1:p.Thr193= |
| ENST00000355265.7:c.578C= MANE Select | ENSP00000347409.2:p.Thr193= |
| NM_000420.2:c.578C= | NP_000411.1:p.Thr193= |
| ENST00000355265.6:c.578C= | ENSP00000347409.2:p.Thr193= |
| ENST00000467543.5:c.521C= | ENSP00000420011.1:p.Thr174= |
| ENST00000467543.6:c.*430C= | ENSP00000420011.2:n.*430C= |
| ENST00000476829.5:c.525+383C= | ENSP00000419889.1:n.525+383C= |
| ENST00000479768.6:n.696C= | |
| ENST00000494148.1:n.177C= | |
| XM_005249993.2:c.614C= | XP_005250050.1:p.Thr205= |