Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160136307C= , CM000663.2:g.160136307C= | GRCh38 |
| NC_000001.10:g.160106097C= , CM000663.1:g.160106097C= | GRCh37 |
| NC_000001.9:g.158372721C= | NCBI36 |
| NG_008014.1:g.25550C= , LRG_6:g.25550C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000702.4:c.2500C= MANE Select | NP_000693.1:p.Arg834= |
| ENST00000361216.8:c.2500C= MANE Select | ENSP00000354490.3:p.Arg834= |
| NM_000702.3:c.2500C= | NP_000693.1:p.Arg834= |
| ENST00000361216.7:c.2500C= | ENSP00000354490.3:p.Arg834= |
| ENST00000392233.7:c.2500C= | ENSP00000376066.3:p.Arg834= |
| ENST00000447527.1:c.1632C= | |
| ENST00000472488.5:n.2603C= |