Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.33850976A>C , CM000682.2:g.33850976A>C | GRCh38 |
| NC_000020.10:g.32438782A>C , CM000682.1:g.32438782A>C | GRCh37 |
| NC_000020.9:g.31902443A>C | NCBI36 |
| NG_015820.1:g.44673A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000217402.3:c.393A>C MANE Select | ENSP00000217402.2:p.Leu131Phe | |
| ENST00000217402.2:c.393A>C | ENSP00000217402.2:p.Leu131Phe | |
| NM_176812.4:c.393A>C | NP_789782.1:p.Leu131Phe | |
| NM_176812.5:c.393A>C MANE Select | NP_789782.1:p.Leu131Phe |