Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.130381643G>A , CM000669.2:g.130381643G>A | GRCh38 |
| NC_000007.13:g.130021484G>A , CM000669.1:g.130021484G>A | GRCh37 |
| NC_000007.12:g.129808720G>A | NCBI36 |
| NG_042276.1:g.6273G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001868.4:c.161G>A MANE Select | NP_001859.1:p.Arg54Gln |
| ENST00000011292.8:c.161G>A MANE Select | ENSP00000011292.3:p.Arg54Gln |
| NM_001868.3:c.161G>A | NP_001859.1:p.Arg54Gln |
| ENST00000011292.7:c.161G>A | ENSP00000011292.3:p.Arg54Gln |
| ENST00000476062.5:c.-104G>A | ENSP00000419408.1:n.-104G>A |
| ENST00000481342.5:c.-104G>A | ENSP00000420218.1:n.-104G>A |
| ENST00000484324.1:c.-104G>A | ENSP00000419497.1:n.-104G>A |
| ENST00000491460.5:n.175-52G>A | |
| ENST00000604896.5:c.141+497G>A | ENSP00000475021.1:n.141+497G>A |