Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36564785A>G , CM000684.2:g.36564785A>G | GRCh38 |
| NC_000022.10:g.36960832A>G , CM000684.1:g.36960832A>G | GRCh37 |
| NC_000022.9:g.35290778A>G | NCBI36 |
| NG_031861.1:g.142859T>C | |
| NG_031861.2:g.143074T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300105.7:c.538T>C MANE Select | ENSP00000300105.6:p.Phe180Leu | |
| ENST00000300105.6:c.538T>C | ENSP00000300105.6:p.Phe180Leu | |
| NM_006078.3:c.538T>C | NP_006069.1:p.Phe180Leu | |
| NM_006078.4:c.538T>C | NP_006069.1:p.Phe180Leu | |
| XM_017028531.2:c.280T>C | XP_016884020.1:p.Phe94Leu | |
| NM_001379051.1:c.469T>C | NP_001365980.1:p.Phe157Leu | |
| NM_006078.5:c.538T>C MANE Select | NP_006069.1:p.Phe180Leu | |
| NR_166440.1:n.1904T>C |