Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.59792934G= , CM000672.2:g.59792934G= | GRCh38 |
| NC_000010.10:g.61552692G= , CM000672.1:g.61552692G= | GRCh37 |
| NC_000010.9:g.61222698G= | NCBI36 |
| NG_027819.1:g.118723C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005436.5:c.1408C= MANE Select | NP_005427.2:p.Pro470= |
| ENST00000263102.7:c.1408C= MANE Select | ENSP00000263102.6:p.Pro470= |
| NM_005436.4:c.1408C= | NP_005427.2:p.Pro470= |
| ENST00000263102.6:c.1408C= | ENSP00000263102.6:p.Pro470= |
| ENST00000491922.1:n.1460C= |