Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.100277467G>A , CM000676.2:g.100277467G>A | GRCh38 |
| NC_000014.8:g.100743804G>A , CM000676.1:g.100743804G>A | GRCh37 |
| NC_000014.7:g.99813557G>A | NCBI36 |
| NG_046908.1:g.43703G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003403.5:c.1112G>A MANE Select | NP_003394.1:p.Arg371His |
| ENST00000262238.10:c.1112G>A MANE Select | ENSP00000262238.4:p.Arg371His |
| NM_003403.4:c.1112G>A | NP_003394.1:p.Arg371His |
| ENST00000262238.8:c.1112G>A | ENSP00000262238.4:p.Arg371His |
| ENST00000554579.1:n.500G>A | |
| ENST00000554804.1:c.439G>A | |
| ENST00000623799.1:n.1739G>A | |
| ENST00000651219.1:c.602G>A | ENSP00000498329.1:n.602G>A |
| ENST00000704024.1:n.1161G>A | |
| ENST00000704485.1:c.350G>A | ENSP00000515913.1:p.Arg117His |