Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.49991734C>A , CM000679.2:g.49991734C>A | GRCh38 |
| NC_000017.10:g.48069098C>A , CM000679.1:g.48069098C>A | GRCh37 |
| NC_000017.9:g.45424097C>A | NCBI36 |
| NG_023063.1:g.8491G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000434704.2:c.647G>T MANE Select | ENSP00000389870.2:p.Trp216Leu | |
| ENST00000512495.2:c.287G>T | ENSP00000449976.1:p.Trp96Leu | |
| NM_005220.2:c.647G>T | NP_005211.1:p.Trp216Leu | |
| XM_011524458.1:c.516+1666G>T | XP_011522760.1:n.516+1666G>T | |
| NM_005220.3:c.647G>T MANE Select | NP_005211.1:p.Trp216Leu |