Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130681353G>A , CM000671.2:g.130681353G>A | GRCh38 |
| NC_000009.11:g.133556740G>A , CM000671.1:g.133556740G>A | GRCh37 |
| NC_000009.10:g.132546561G>A | NCBI36 |
| NG_053081.1:g.21760G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021619.3:c.788G>A MANE Select | NP_067632.2:p.Arg263His |
| ENST00000253008.3:c.788G>A MANE Select | ENSP00000253008.2:p.Arg263His |
| NM_021619.2:c.788G>A | NP_067632.2:p.Arg263His |
| ENST00000253008.2:c.788G>A | ENSP00000253008.2:p.Arg263His |
| ENST00000676323.1:c.788G>A | ENSP00000502471.1:p.Arg263His |