Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.541496G>A , CM000681.2:g.541496G>A | GRCh38 |
| NC_000019.9:g.541496G>A , CM000681.1:g.541496G>A | GRCh37 |
| NC_000019.8:g.492496G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215574.9:c.655G>A MANE Select | ENSP00000215574.2:p.Glu219Lys | |
| ENST00000215574.8:c.655G>A | ENSP00000215574.2:p.Glu219Lys | |
| ENST00000586283.6:c.551G>A | ||
| ENST00000593036.4:n.194G>A | ||
| ENST00000606065.3:c.471G>A | ENSP00000475610.1:n.471G>A | |
| ENST00000606400.3:n.353G>A | ||
| ENST00000607527.5:c.268G>A | ENSP00000476107.2:p.Glu90Lys | |
| NM_004359.1:c.655G>A | NP_004350.1:p.Glu219Lys | |
| XM_006722952.2:c.*111G>A | XP_006723015.1:n.*111G>A | |
| NM_004359.2:c.655G>A MANE Select | NP_004350.1:p.Glu219Lys |