Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19962136G>A , CM000670.2:g.19962136G>A | GRCh38 |
| NC_000008.10:g.19819647G>A , CM000670.1:g.19819647G>A | GRCh37 |
| NC_000008.9:g.19863927G>A | NCBI36 |
| NG_008855.1:g.28066G>A | |
| NG_008855.2:g.65420G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.1344G>A MANE Select | ENSP00000497642.1:p.Glu448= | |
| ENST00000650478.1:c.284G>A | ENSP00000497560.1:n.284G>A | |
| ENST00000311322.8:c.1344G>A | ENSP00000309757.6:p.Glu448= | |
| NM_000237.2:c.1344G>A | NP_000228.1:p.Glu448= | |
| NM_000237.3:c.1344G>A MANE Select | NP_000228.1:p.Glu448= |