Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19955874G= , CM000670.2:g.19955874G= | GRCh38 |
| NC_000008.10:g.19813385G= , CM000670.1:g.19813385G= | GRCh37 |
| NC_000008.9:g.19857665G= | NCBI36 |
| NG_008855.1:g.21804G= | |
| NG_008855.2:g.59158G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000237.3:c.809G= MANE Select | NP_000228.1:p.Arg270= |
| ENST00000650287.1:c.809G= MANE Select | ENSP00000497642.1:p.Arg270= |
| NM_000237.2:c.809G= | NP_000228.1:p.Arg270= |
| ENST00000311322.8:c.809G= | ENSP00000309757.6:p.Arg270= |