Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45767073C= , CM000681.2:g.45767073C= | GRCh38 |
| NC_000019.9:g.46270331C= , CM000681.1:g.46270331C= | GRCh37 |
| NC_000019.8:g.50962171C= | NCBI36 |
| NG_012745.1:g.7167G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_175875.5:c.886G= MANE Select | NP_787071.3:p.Ala296= |
| ENST00000317578.7:c.886G= MANE Select | ENSP00000316842.4:p.Ala296= |
| NM_175875.4:c.886G= | NP_787071.2:p.Ala296= |
| ENST00000317578.6:c.886G= | ENSP00000316842.4:p.Ala296= |
| ENST00000560160.1:c.587-962G= | |
| ENST00000560168.1:c.*74G= | ENSP00000453189.2:n.*74G= |
| ENST00000622857.1:c.16-1111G= | ENSP00000481365.1:n.16-1111G= |