Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52807139A>G , CM000674.2:g.52807139A>G | GRCh38 |
| NC_000012.11:g.53200923A>G , CM000674.1:g.53200923A>G | GRCh37 |
| NC_000012.10:g.51487190A>G | NCBI36 |
| NG_007380.1:g.12413T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002272.4:c.1493T>C MANE Select | NP_002263.3:p.Phe498Ser |
| ENST00000551956.2:c.1493T>C MANE Select | ENSP00000448220.1:p.Phe498Ser |
| NM_002272.3:c.1493T>C | NP_002263.3:p.Phe498Ser |
| ENST00000548097.5:c.*1005T>C | ENSP00000449755.1:n.*1005T>C |
| ENST00000551956.1:c.1493T>C | ENSP00000448220.1:p.Phe498Ser |