Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.66228282C= , CM000674.2:g.66228282C= | GRCh38 |
| NC_000012.11:g.66622062C= , CM000674.1:g.66622062C= | GRCh37 |
| NC_000012.10:g.64908329C= | NCBI36 |
| NG_021194.1:g.44085C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_007199.3:c.799C= MANE Select | NP_009130.2:p.Arg267= |
| ENST00000261233.9:c.799C= MANE Select | ENSP00000261233.4:p.Arg267= |
| NM_001142523.1:c.616C= | NP_001135995.1:p.Arg206= |
| NM_001142523.2:c.616C= | NP_001135995.1:p.Arg206= |
| NM_007199.2:c.799C= | NP_009130.2:p.Arg267= |
| ENST00000261233.8:c.799C= | ENSP00000261233.4:p.Arg267= |
| ENST00000457197.2:c.616C= | ENSP00000409852.2:p.Arg206= |