Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1075737T>C , CM000673.2:g.1075737T>C | GRCh38 |
| NC_000011.9:g.1075737T>C , CM000673.1:g.1075737T>C | GRCh37 |
| NC_000011.8:g.1065737T>C | NCBI36 |
| NG_051929.1:g.5863T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361558.7:n.190T>C | ||
| ENST00000675028.1:c.163T>C | ENSP00000502432.1:p.Phe55Leu | |
| NM_002457.3:c.163T>C | NP_002448.3:p.Phe55Leu | |
| NM_002457.4:c.163T>C | NP_002448.4:p.Phe55Leu |