Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.99985097G>A , CM000675.2:g.99985097G>A | GRCh38 |
| NC_000013.10:g.100637351G>A , CM000675.1:g.100637351G>A | GRCh37 |
| NC_000013.9:g.99435352G>A | NCBI36 |
| NG_007085.2:g.8033G>A | |
| NG_007085.3:g.8342G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376335.8:c.1227G>A MANE Select | ENSP00000365514.3:p.Arg409= | |
| ENST00000376335.7:c.1227G>A | ENSP00000365514.3:p.Arg409= | |
| ENST00000468291.1:n.201G>A | ||
| ENST00000477213.1:n.309G>A | ||
| ENST00000490085.5:n.273G>A | ||
| ENST00000620342.1:c.1224G>A | ENSP00000481510.1:p.Arg408= | |
| NM_007129.3:c.1227G>A | NP_009060.2:p.Arg409= | |
| XM_011521110.1:c.1227G>A | XP_011519412.1:p.Arg409= | |
| NM_007129.4:c.1227G>A | NP_009060.2:p.Arg409= | |
| NM_007129.5:c.1227G>A MANE Select | NP_009060.2:p.Arg409= |