Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.22148311C>T , CM000670.2:g.22148311C>T | GRCh38 |
| NC_000008.10:g.22005824C>T , CM000670.1:g.22005824C>T | GRCh37 |
| NC_000008.9:g.22061769C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_139278.4:c.1496G>A MANE Select | NP_644807.1:p.Arg499Gln |
| ENST00000306317.7:c.1496G>A MANE Select | ENSP00000302297.2:p.Arg499Gln |
| NM_139278.2:c.1496G>A | NP_644807.1:p.Arg499Gln |
| NM_139278.3:c.1496G>A | NP_644807.1:p.Arg499Gln |
| ENST00000306317.6:c.1496G>A | ENSP00000302297.2:p.Arg499Gln |
| ENST00000424267.6:c.1424G>A | ENSP00000399121.2:p.Arg475Gln |
| ENST00000520124.5:n.2939G>A |