Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23118700C>T , CM000676.2:g.23118700C>T | GRCh38 |
| NC_000014.8:g.23587909C>T , CM000676.1:g.23587909C>T | GRCh37 |
| NC_000014.7:g.22657749C>T | NCBI36 |
| NG_009617.1:g.5566G>A , LRG_45:g.5566G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696121.1:n.361G>A | ||
| ENST00000696122.1:n.138G>A | ||
| ENST00000206513.6:c.392G>A MANE Select | ENSP00000206513.5:p.Arg131Gln | |
| ENST00000206513.5:c.392G>A | ENSP00000206513.5:p.Arg131Gln | |
| NM_001805.3:c.392G>A | NP_001796.2:p.Arg131Gln | |
| XM_011536359.1:c.347G>A | XP_011534661.1:p.Arg116Gln | |
| NM_001805.4:c.392G>A MANE Select | NP_001796.2:p.Arg131Gln |