Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49459242C= , CM000668.2:g.49459242C= | GRCh38 |
| NC_000006.11:g.49426955C= , CM000668.1:g.49426955C= | GRCh37 |
| NC_000006.10:g.49534914C= | NCBI36 |
| NG_007100.1:g.8898G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274813.4:c.225G= MANE Select | ENSP00000274813.3:p.Lys75= | |
| ENST00000274813.3:c.225G= | ENSP00000274813.3:p.Lys75= | |
| NM_000255.3:c.225G= | NP_000246.2:p.Lys75= | |
| XM_005249143.2:c.225G= | XP_005249200.1:p.Lys75= | |
| XM_005249143.3:c.225G= | XP_005249200.1:p.Lys75= | |
| NM_000255.4:c.225G= MANE Select | NP_000246.2:p.Lys75= |