Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36564862A= , CM000684.2:g.36564862A= | GRCh38 |
| NC_000022.10:g.36960909A= , CM000684.1:g.36960909A= | GRCh37 |
| NC_000022.9:g.35290855A= | NCBI36 |
| NG_031861.1:g.142782T= | |
| NG_031861.2:g.142997T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300105.7:c.461T= MANE Select | ENSP00000300105.6:p.Ile154= | |
| ENST00000300105.6:c.461T= | ENSP00000300105.6:p.Ile154= | |
| NM_006078.3:c.461T= | NP_006069.1:p.Ile154= | |
| NM_006078.4:c.461T= | NP_006069.1:p.Ile154= | |
| XM_017028531.2:c.203T= | XP_016884020.1:p.Ile68= | |
| NM_001379051.1:c.392T= | NP_001365980.1:p.Ile131= | |
| NM_006078.5:c.461T= MANE Select | NP_006069.1:p.Ile154= | |
| NR_166440.1:n.1827T= |