Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118168668A>G , CM000673.2:g.118168668A>G | GRCh38 |
| NC_000011.9:g.118039383A>G , CM000673.1:g.118039383A>G | GRCh37 |
| NC_000011.8:g.117544593A>G | NCBI36 |
| NG_042217.1:g.12955T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278947.6:c.154T>C MANE Select | ENSP00000278947.5:p.Phe52Leu | |
| ENST00000658882.1:c.258T>C | ENSP00000499572.1:p.Pro86= | |
| ENST00000665446.1:n.390T>C | ||
| ENST00000669850.1:n.396T>C | ||
| ENST00000278947.5:c.154T>C | ENSP00000278947.5:p.Phe52Leu | |
| NM_004588.4:c.154T>C | NP_004579.1:p.Phe52Leu | |
| NM_004588.5:c.154T>C MANE Select | NP_004579.1:p.Phe52Leu |