Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94011330A>G , CM000663.2:g.94011330A>G | GRCh38 |
| NC_000001.10:g.94476886A>G , CM000663.1:g.94476886A>G | GRCh37 |
| NC_000001.9:g.94249474A>G | NCBI36 |
| NG_009073.1:g.114820T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000350.3:c.5516T>C MANE Select | NP_000341.2:p.Phe1839Ser |
| ENST00000370225.4:c.5516T>C MANE Select | ENSP00000359245.3:p.Phe1839Ser |
| NM_000350.2:c.5516T>C | NP_000341.2:p.Phe1839Ser |
| ENST00000370225.3:c.5516T>C | ENSP00000359245.3:p.Phe1839Ser |
| ENST00000536513.5:c.1892T>C | ENSP00000439707.2:p.Phe631Ser |