Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64751619C>T , CM000673.2:g.64751619C>T | GRCh38 |
| NC_000011.9:g.64519091C>T , CM000673.1:g.64519091C>T | GRCh37 |
| NC_000011.8:g.64275667C>T | NCBI36 |
| NG_013018.1:g.14097G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005609.4:c.1805G>A MANE Select | NP_005600.1:p.Arg602Gln |
| ENST00000164139.4:c.1805G>A MANE Select | ENSP00000164139.3:p.Arg602Gln |
| NM_001164716.1:c.1541G>A | NP_001158188.1:p.Arg514Gln |
| NM_005609.2:c.1805G>A | NP_005600.1:p.Arg602Gln |
| NM_005609.3:c.1805G>A | NP_005600.1:p.Arg602Gln |
| ENST00000164139.3:c.1805G>A | ENSP00000164139.3:p.Arg602Gln |
| ENST00000377432.7:c.1541G>A | ENSP00000366650.3:p.Arg514Gln |
| ENST00000462303.1:n.129G>A |