Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19962213C= , CM000670.2:g.19962213C= | GRCh38 |
| NC_000008.10:g.19819724C= , CM000670.1:g.19819724C= | GRCh37 |
| NC_000008.9:g.19864004C= | NCBI36 |
| NG_008855.1:g.28143C= | |
| NG_008855.2:g.65497C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000237.3:c.1421C= MANE Select | NP_000228.1:p.Ser474= |
| ENST00000650287.1:c.1421C= MANE Select | ENSP00000497642.1:p.Ser474= |
| NM_000237.2:c.1421C= | NP_000228.1:p.Ser474= |
| ENST00000311322.8:c.1421C= | ENSP00000309757.6:p.Ser474= |
| ENST00000650478.1:c.361C= | ENSP00000497560.1:n.361C= |