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