Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.54621107A>G , CM000670.2:g.54621107A>G | GRCh38 |
| NC_000008.10:g.55533667A>G , CM000670.1:g.55533667A>G | GRCh37 |
| NC_000008.9:g.55696220A>G | NCBI36 |
| NG_009840.1:g.10041A>G | |
| NG_009840.2:g.10041A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006269.2:c.141A>G MANE Select | NP_006260.1:p.Gln47= |
| ENST00000220676.2:c.141A>G MANE Select | ENSP00000220676.1:p.Gln47= |
| NM_001375654.1:c.141A>G | NP_001362583.1:p.Gln47= |
| NM_006269.1:c.141A>G | NP_006260.1:p.Gln47= |
| ENST00000220676.1:c.141A>G | ENSP00000220676.1:p.Gln47= |
| ENST00000636932.1:c.141A>G | ENSP00000489857.1:p.Gln47= |
| ENST00000637698.1:c.141A>G | ENSP00000490104.1:p.Gln47= |
| XM_017013721.1:c.162A>G | XP_016869210.1:p.Gln54= |
| XM_017013722.1:c.141A>G | XP_016869211.1:p.Gln47= |