Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36564610C>A , CM000684.2:g.36564610C>A | GRCh38 |
| NC_000022.10:g.36960657C>A , CM000684.1:g.36960657C>A | GRCh37 |
| NC_000022.9:g.35290603C>A | NCBI36 |
| NG_031861.1:g.143034G>T | |
| NG_031861.2:g.143249G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300105.7:c.713G>T MANE Select | ENSP00000300105.6:p.Arg238Leu | |
| ENST00000300105.6:c.713G>T | ENSP00000300105.6:p.Arg238Leu | |
| NM_006078.3:c.713G>T | NP_006069.1:p.Arg238Leu | |
| NM_006078.4:c.713G>T | NP_006069.1:p.Arg238Leu | |
| XM_017028531.2:c.455G>T | XP_016884020.1:p.Arg152Leu | |
| NM_001379051.1:c.644G>T | NP_001365980.1:p.Arg215Leu | |
| NM_006078.5:c.713G>T MANE Select | NP_006069.1:p.Arg238Leu | |
| NR_166440.1:n.2079G>T |