Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36564622T>A , CM000684.2:g.36564622T>A | GRCh38 |
| NC_000022.10:g.36960669T>A , CM000684.1:g.36960669T>A | GRCh37 |
| NC_000022.9:g.35290615T>A | NCBI36 |
| NG_031861.1:g.143022A>T | |
| NG_031861.2:g.143237A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300105.7:c.701A>T MANE Select | ENSP00000300105.6:p.Gln234Leu | |
| ENST00000300105.6:c.701A>T | ENSP00000300105.6:p.Gln234Leu | |
| NM_006078.3:c.701A>T | NP_006069.1:p.Gln234Leu | |
| NM_006078.4:c.701A>T | NP_006069.1:p.Gln234Leu | |
| XM_017028531.2:c.443A>T | XP_016884020.1:p.Gln148Leu | |
| NM_001379051.1:c.632A>T | NP_001365980.1:p.Gln211Leu | |
| NM_006078.5:c.701A>T MANE Select | NP_006069.1:p.Gln234Leu | |
| NR_166440.1:n.2067A>T |