Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19954231G= , CM000670.2:g.19954231G= | GRCh38 |
| NC_000008.10:g.19811742G= , CM000670.1:g.19811742G= | GRCh37 |
| NC_000008.9:g.19856022G= | NCBI36 |
| NG_008855.1:g.20161G= | |
| NG_008855.2:g.57515G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650287.1:c.653G= MANE Select | ENSP00000497642.1:p.Gly218= | |
| ENST00000311322.8:c.653G= | ENSP00000309757.6:p.Gly218= | |
| NM_000237.2:c.653G= | NP_000228.1:p.Gly218= | |
| NM_000237.3:c.653G= MANE Select | NP_000228.1:p.Gly218= |