Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43025304G>A , CM000668.2:g.43025304G>A | GRCh38 |
| NC_000006.11:g.42993042G>A , CM000668.1:g.42993042G>A | GRCh37 |
| NC_000006.10:g.43101020G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_033112.4:c.320G>A MANE Select | NP_149103.1:p.Arg107His |
| ENST00000244496.6:c.320G>A MANE Select | ENSP00000244496.5:p.Arg107His |
| NM_001329704.1:c.320G>A | NP_001316633.1:p.Arg107His |
| NM_001329704.2:c.320G>A | NP_001316633.1:p.Arg107His |
| NM_033112.2:c.320G>A | NP_149103.1:p.Arg107His |
| NM_033112.3:c.320G>A | NP_149103.1:p.Arg107His |
| NR_138081.1:n.373G>A | |
| NR_138081.2:n.352G>A | |
| ENST00000244496.5:c.320G>A | ENSP00000244496.5:p.Arg107His |
| XR_926324.1:n.339G>A |