Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36564783G>T , CM000684.2:g.36564783G>T | GRCh38 |
| NC_000022.10:g.36960830G>T , CM000684.1:g.36960830G>T | GRCh37 |
| NC_000022.9:g.35290776G>T | NCBI36 |
| NG_031861.1:g.142861C>A | |
| NG_031861.2:g.143076C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300105.7:c.540C>A MANE Select | ENSP00000300105.6:p.Phe180Leu | |
| ENST00000300105.6:c.540C>A | ENSP00000300105.6:p.Phe180Leu | |
| NM_006078.3:c.540C>A | NP_006069.1:p.Phe180Leu | |
| NM_006078.4:c.540C>A | NP_006069.1:p.Phe180Leu | |
| XM_017028531.2:c.282C>A | XP_016884020.1:p.Phe94Leu | |
| NM_001379051.1:c.471C>A | NP_001365980.1:p.Phe157Leu | |
| NM_006078.5:c.540C>A MANE Select | NP_006069.1:p.Phe180Leu | |
| NR_166440.1:n.1906C>A |