Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.54625911C= , CM000670.2:g.54625911C= | GRCh38 |
| NC_000008.10:g.55538471C= , CM000670.1:g.55538471C= | GRCh37 |
| NC_000008.9:g.55701024C= | NCBI36 |
| NG_009840.1:g.14845C= | |
| NG_009840.2:g.14845C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006269.2:c.2029C= MANE Select | NP_006260.1:p.Arg677= |
| ENST00000220676.2:c.2029C= MANE Select | ENSP00000220676.1:p.Arg677= |
| NM_001375654.1:c.787+3623C= | NP_001362583.1:n.787+3623C= |
| NM_006269.1:c.2029C= | NP_006260.1:p.Arg677= |
| ENST00000220676.1:c.2029C= | ENSP00000220676.1:p.Arg677= |
| ENST00000636932.1:c.787+3623C= | ENSP00000489857.1:n.787+3623C= |
| ENST00000637698.1:c.787+3623C= | ENSP00000490104.1:n.787+3623C= |
| XM_017013721.1:c.2050C= | XP_016869210.1:p.Arg684= |
| XM_017013722.1:c.2029C= | XP_016869211.1:p.Arg677= |