Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55231631G= , CM000667.2:g.55231631G= | GRCh38 |
| NC_000005.9:g.54527459G= , CM000667.1:g.54527459G= | GRCh37 |
| NC_000005.8:g.54563216G= | NCBI36 |
| NG_034201.1:g.7087C= | |
| NG_051620.1:g.685C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282572.5:c.797C= MANE Select | ENSP00000282572.4:p.Ala266= | |
| ENST00000282572.4:c.797C= | ENSP00000282572.4:p.Ala266= | |
| ENST00000501463.2:c.*777C= | ENSP00000422485.1:n.*777C= | |
| NM_021147.4:c.797C= | NP_066970.3:p.Ala266= | |
| NR_125346.1:n.1367C= | ||
| NR_125347.1:n.996C= | ||
| NR_125348.1:n.861C= | ||
| NM_021147.5:c.797C= MANE Select | NP_066970.3:p.Ala266= | |
| NR_125346.2:n.1258C= | ||
| NR_125347.2:n.887C= |