Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19956056A>G , CM000670.2:g.19956056A>G | GRCh38 |
| NC_000008.10:g.19813567A>G , CM000670.1:g.19813567A>G | GRCh37 |
| NC_000008.9:g.19857847A>G | NCBI36 |
| NG_008855.1:g.21986A>G | |
| NG_008855.2:g.59340A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000237.3:c.991A>G MANE Select | NP_000228.1:p.Lys331Glu |
| ENST00000650287.1:c.991A>G MANE Select | ENSP00000497642.1:p.Lys331Glu |
| NM_000237.2:c.991A>G | NP_000228.1:p.Lys331Glu |
| ENST00000311322.8:c.991A>G | ENSP00000309757.6:p.Lys331Glu |
| ENST00000650478.1:c.52A>G | ENSP00000497560.1:p.Lys18Glu |