Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.102922704C= , CM000676.2:g.102922704C= | GRCh38 |
| NC_000014.8:g.103389041C= , CM000676.1:g.103389041C= | GRCh37 |
| NC_000014.7:g.102458794C= | NCBI36 |
| NG_008276.2:g.5049C= , LRG_642:g.5049C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299155.10:c.16C= MANE Select | ENSP00000299155.6:p.Arg6= | |
| ENST00000299155.9:c.16C= | ENSP00000299155.5:p.Arg6= | |
| NM_030943.3:c.16C= , LRG_642t1:c.16C= | NP_112205.2:p.Arg6= | |
| XM_011537202.1:c.-166C= | XP_011535504.1:n.-166C= | |
| XM_011537202.3:c.-166C= | XP_011535504.1:n.-166C= | |
| XM_024449714.1:c.112C= | XP_024305482.1:p.Arg38= | |
| NM_030943.4:c.16C= MANE Select | NP_112205.2:p.Arg6= |