Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.42049781C= , CM000664.2:g.42049781C= | GRCh38 |
| NC_000002.11:g.42276921C= , CM000664.1:g.42276921C= | GRCh37 |
| NC_000002.10:g.42130425C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294964.6:c.639+943C= MANE Select | ENSP00000294964.5:n.639+943C= | |
| ENST00000294964.5:c.639+943C= | ENSP00000294964.5:n.639+943C= | |
| ENST00000401498.6:c.497+943C= | ENSP00000385220.2:n.497+943C= | |
| ENST00000485578.1:n.260+943C= | ||
| ENST00000492861.1:n.65+943C= | ||
| NM_138370.2:c.639+943C= | NP_612379.2:n.639+943C= | |
| NM_138370.3:c.639+943C= MANE Select | NP_612379.2:n.639+943C= |