Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.121679509G= , CM000666.2:g.121679509G= | GRCh38 |
| NC_000004.11:g.122600664G= , CM000666.1:g.122600664G= | GRCh37 |
| NC_000004.10:g.122820114G= | NCBI36 |
| NG_032042.1:g.22484C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001154.4:c.395-1015C= MANE Select | NP_001145.1:n.395-1015C= |
| ENST00000296511.10:c.395-1015C= MANE Select | ENSP00000296511.5:n.395-1015C= |
| NM_001154.3:c.395-1015C= | NP_001145.1:n.395-1015C= |
| ENST00000296511.9:c.395-1015C= | ENSP00000296511.5:n.395-1015C= |
| ENST00000501272.6:c.215-1015C= | ENSP00000424106.1:n.215-1015C= |
| ENST00000506395.5:c.395-1015C= | ENSP00000421421.1:n.395-1015C= |
| ENST00000509016.5:n.516-1015C= | |
| ENST00000511552.5:n.781-1015C= | |
| ENST00000515017.5:c.95-1015C= | ENSP00000424199.1:n.95-1015C= |