Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110162238T>C , CM000675.2:g.110162238T>C | GRCh38 |
| NC_000013.10:g.110814585T>C , CM000675.1:g.110814585T>C | GRCh37 |
| NC_000013.9:g.109612586T>C | NCBI36 |
| NG_011544.2:g.149912A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001845.6:c.4454A>G MANE Select | NP_001836.3:p.Gln1485Arg |
| ENST00000375820.10:c.4454A>G MANE Select | ENSP00000364979.4:p.Gln1485Arg |
| NM_001845.5:c.4454A>G | NP_001836.3:p.Gln1485Arg |
| ENST00000375820.8:c.4454A>G | ENSP00000364979.4:p.Gln1485Arg |
| ENST00000467182.1:n.233A>G | |
| ENST00000474391.1:n.301A>G | |
| ENST00000649720.1:n.622A>G | |
| ENST00000650424.1:c.610A>G | |
| XM_011521048.1:c.4262A>G | XP_011519350.1:p.Gln1421Arg |
| XM_011521048.2:c.4262A>G | XP_011519350.1:p.Gln1421Arg |