Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154902120G= , CM000685.2:g.154902120G= | GRCh38 |
| NC_000023.10:g.154130395G= , CM000685.1:g.154130395G= | GRCh37 |
| NC_000023.9:g.153783589G= | NCBI36 |
| NG_011403.1:g.125604C= | |
| NG_011403.2:g.125604C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000132.4:c.6046C= MANE Select | NP_000123.1:p.Arg2016= |
| ENST00000360256.9:c.6046C= MANE Select | ENSP00000353393.4:p.Arg2016= |
| NM_000132.3:c.6046C= | NP_000123.1:p.Arg2016= |
| ENST00000360256.8:c.6046C= | ENSP00000353393.4:p.Arg2016= |
| XM_011531126.1:c.5941C= | XP_011529428.1:p.Arg1981= |