Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.59793085A>T , CM000672.2:g.59793085A>T | GRCh38 |
| NC_000010.10:g.61552843A>T , CM000672.1:g.61552843A>T | GRCh37 |
| NC_000010.9:g.61222849A>T | NCBI36 |
| NG_027819.1:g.118572T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005436.5:c.1257T>A MANE Select | NP_005427.2:p.Ser419Arg |
| ENST00000263102.7:c.1257T>A MANE Select | ENSP00000263102.6:p.Ser419Arg |
| NM_005436.4:c.1257T>A | NP_005427.2:p.Ser419Arg |
| ENST00000263102.6:c.1257T>A | ENSP00000263102.6:p.Ser419Arg |
| ENST00000491922.1:n.1309T>A |