Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.71719372G= , CM000667.2:g.71719372G= | GRCh38 |
| NC_000005.9:g.71015199G= , CM000667.1:g.71015199G= | GRCh37 |
| NC_000005.8:g.71050955G= | NCBI36 |
| NG_015988.1:g.5210G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296777.5:c.79G= MANE Select | ENSP00000296777.4:p.Ala27= | |
| ENST00000296777.4:c.79G= | ENSP00000296777.4:p.Ala27= | |
| NM_004291.3:c.79G= | NP_004282.1:p.Ala27= | |
| NM_004291.4:c.79G= MANE Select | NP_004282.1:p.Ala27= |