Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.59793087T>G , CM000672.2:g.59793087T>G | GRCh38 |
| NC_000010.10:g.61552845T>G , CM000672.1:g.61552845T>G | GRCh37 |
| NC_000010.9:g.61222851T>G | NCBI36 |
| NG_027819.1:g.118570A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005436.5:c.1255A>C MANE Select | NP_005427.2:p.Ser419Arg |
| ENST00000263102.7:c.1255A>C MANE Select | ENSP00000263102.6:p.Ser419Arg |
| NM_005436.4:c.1255A>C | NP_005427.2:p.Ser419Arg |
| ENST00000263102.6:c.1255A>C | ENSP00000263102.6:p.Ser419Arg |
| ENST00000491922.1:n.1307A>C |