Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19954340G>C , CM000670.2:g.19954340G>C | GRCh38 |
| NC_000008.10:g.19811851G>C , CM000670.1:g.19811851G>C | GRCh37 |
| NC_000008.9:g.19856131G>C | NCBI36 |
| NG_008855.1:g.20270G>C | |
| NG_008855.2:g.57624G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.762G>C MANE Select | ENSP00000497642.1:p.Glu254Asp | |
| ENST00000311322.8:c.762G>C | ENSP00000309757.6:p.Glu254Asp | |
| NM_000237.2:c.762G>C | NP_000228.1:p.Glu254Asp | |
| NM_000237.3:c.762G>C MANE Select | NP_000228.1:p.Glu254Asp |