Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.121679453A= , CM000666.2:g.121679453A= | GRCh38 |
| NC_000004.11:g.122600608A= , CM000666.1:g.122600608A= | GRCh37 |
| NC_000004.10:g.122820058A= | NCBI36 |
| NG_032042.1:g.22540T= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000296511.10:c.395-959T= MANE Select | ENSP00000296511.5:n.395-959T= | |
| ENST00000296511.9:c.395-959T= | ENSP00000296511.5:n.395-959T= | |
| ENST00000501272.6:c.215-959T= | ENSP00000424106.1:n.215-959T= | |
| ENST00000506395.5:c.395-959T= | ENSP00000421421.1:n.395-959T= | |
| ENST00000509016.5:n.516-959T= | ||
| ENST00000511552.5:n.781-959T= | ||
| ENST00000515017.5:c.95-959T= | ENSP00000424199.1:n.95-959T= | |
| NM_001154.3:c.395-959T= | NP_001145.1:n.395-959T= | |
| NM_001154.4:c.395-959T= MANE Select | NP_001145.1:n.395-959T= |