Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.155811862C= , CM000669.2:g.155811862C= | GRCh38 |
| NC_000007.13:g.155604556C= , CM000669.1:g.155604556C= | GRCh37 |
| NC_000007.12:g.155297317C= | NCBI36 |
| NG_007504.2:g.5412G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297261.7:c.261G= MANE Select | ENSP00000297261.2:p.Lys87= | |
| ENST00000297261.6:c.261G= | ENSP00000297261.2:p.Lys87= | |
| NM_000193.2:c.261G= | NP_000184.1:p.Lys87= | |
| NM_000193.3:c.261G= | NP_000184.1:p.Lys87= | |
| NM_000193.4:c.261G= MANE Select | NP_000184.1:p.Lys87= |