Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.100277479G>A , CM000676.2:g.100277479G>A | GRCh38 |
| NC_000014.8:g.100743816G>A , CM000676.1:g.100743816G>A | GRCh37 |
| NC_000014.7:g.99813569G>A | NCBI36 |
| NG_046908.1:g.43715G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003403.5:c.1124G>A MANE Select | NP_003394.1:p.Arg375Gln |
| ENST00000262238.10:c.1124G>A MANE Select | ENSP00000262238.4:p.Arg375Gln |
| NM_003403.4:c.1124G>A | NP_003394.1:p.Arg375Gln |
| ENST00000262238.8:c.1124G>A | ENSP00000262238.4:p.Arg375Gln |
| ENST00000554579.1:n.512G>A | |
| ENST00000554804.1:c.451G>A | |
| ENST00000623799.1:n.1751G>A | |
| ENST00000651219.1:c.614G>A | ENSP00000498329.1:n.614G>A |
| ENST00000704024.1:n.1173G>A | |
| ENST00000704485.1:c.362G>A | ENSP00000515913.1:p.Arg121Gln |