Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66703507C>G , CM000677.2:g.66703507C>G | GRCh38 |
| NC_000015.9:g.66995845C>G , CM000677.1:g.66995845C>G | GRCh37 |
| NC_000015.8:g.64782899C>G | NCBI36 |
| NG_012244.1:g.6172C>G | |
| NG_012244.2:g.6172C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005585.5:c.249C>G MANE Select | NP_005576.3:p.Arg83= |
| ENST00000288840.10:c.249C>G MANE Select | ENSP00000288840.5:p.Arg83= |
| NM_005585.4:c.249C>G | NP_005576.3:p.Arg83= |
| NR_027654.1:n.1172C>G | |
| NR_027654.2:n.1272C>G | |
| ENST00000288840.9:c.249C>G | ENSP00000288840.5:p.Arg83= |
| ENST00000557916.5:c.249C>G | ENSP00000452955.1:p.Arg83= |
| ENST00000612349.1:n.431C>G | |
| XR_931825.1:n.1408C>G | |
| XR_931826.1:n.1408C>G | |
| XR_931827.1:n.1408C>G | |
| XR_931827.2:n.1398C>G |