Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.59792934G>A , CM000672.2:g.59792934G>A | GRCh38 |
| NC_000010.10:g.61552692G>A , CM000672.1:g.61552692G>A | GRCh37 |
| NC_000010.9:g.61222698G>A | NCBI36 |
| NG_027819.1:g.118723C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005436.5:c.1408C>T MANE Select | NP_005427.2:p.Pro470Ser |
| ENST00000263102.7:c.1408C>T MANE Select | ENSP00000263102.6:p.Pro470Ser |
| NM_005436.4:c.1408C>T | NP_005427.2:p.Pro470Ser |
| ENST00000263102.6:c.1408C>T | ENSP00000263102.6:p.Pro470Ser |
| ENST00000491922.1:n.1460C>T |