Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1455914G>C , CM000679.2:g.1455914G>C | GRCh38 |
| NC_000017.10:g.1359208G>C , CM000679.1:g.1359208G>C | GRCh37 |
| NC_000017.9:g.1305958G>C | NCBI36 |
| NG_029008.1:g.5337C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016823.4:c.204C>G MANE Select | NP_058431.2:p.Arg68= |
| ENST00000300574.3:c.204C>G MANE Select | ENSP00000300574.2:p.Arg68= |
| NM_005206.4:c.204C>G | NP_005197.3:p.Arg68= |
| NM_005206.5:c.204C>G | NP_005197.3:p.Arg68= |
| NM_016823.3:c.204C>G | NP_058431.2:p.Arg68= |
| ENST00000300574.2:c.204C>G | ENSP00000300574.2:p.Arg68= |
| ENST00000398970.5:c.204C>G | ENSP00000381942.5:p.Arg68= |
| ENST00000572145.1:n.210+7039C>G | |
| ENST00000574295.1:c.204C>G | ENSP00000459505.1:p.Arg68= |