Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102955390A>G , CM000673.2:g.102955390A>G | GRCh38 |
| NC_000011.9:g.102826119A>G , CM000673.1:g.102826119A>G | GRCh37 |
| NC_000011.8:g.102331329A>G | NCBI36 |
| NG_021404.1:g.5345T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260302.8:c.224T>C MANE Select | ENSP00000260302.3:p.Phe75Ser | |
| ENST00000260302.7:c.224T>C | ENSP00000260302.3:p.Phe75Ser | |
| ENST00000340273.4:c.224T>C | ENSP00000339672.4:p.Phe75Ser | |
| ENST00000615555.4:c.224T>C | ENSP00000482883.1:p.Phe75Ser | |
| NM_002427.3:c.224T>C | NP_002418.1:p.Phe75Ser | |
| NM_002427.4:c.224T>C MANE Select | NP_002418.1:p.Phe75Ser |