Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40931693C>A , CM000677.2:g.40931693C>A | GRCh38 |
| NC_000015.9:g.41223891C>A , CM000677.1:g.41223891C>A | GRCh37 |
| NC_000015.8:g.39011183C>A | NCBI36 |
| NG_046974.1:g.7361C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249749.7:c.585C>A MANE Select | ENSP00000249749.5:p.Phe195Leu | |
| ENST00000249749.6:c.585C>A | ENSP00000249749.5:p.Phe195Leu | |
| ENST00000559440.1:n.814C>A | ||
| NM_019074.3:c.585C>A | NP_061947.1:p.Phe195Leu | |
| NM_019074.4:c.585C>A MANE Select | NP_061947.1:p.Phe195Leu |