Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6595046C>T , CM000671.2:g.6595046C>T | GRCh38 |
| NC_000009.11:g.6595046C>T , CM000671.1:g.6595046C>T | GRCh37 |
| NC_000009.10:g.6585046C>T | NCBI36 |
| NG_016397.1:g.55647G>A , LRG_643:g.55647G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000170.3:c.1229G>A MANE Select | NP_000161.2:p.Arg410Lys |
| ENST00000321612.8:c.1229G>A MANE Select | ENSP00000370737.4:p.Arg410Lys |
| NM_000170.2:c.1229G>A , LRG_643t1:c.1229G>A | NP_000161.2:p.Arg410Lys |
| ENST00000321612.6:c.1229G>A | ENSP00000370737.3:p.Arg410Lys |
| ENST00000463305.1:n.313G>A | |
| ENST00000638654.1:c.476G>A | ENSP00000491101.1:p.Arg159Lys |
| ENST00000639364.1:n.929G>A | |
| ENST00000639443.1:n.797G>A | |
| ENST00000639493.1:n.381G>A | |
| ENST00000639954.1:n.937G>A | |
| ENST00000640592.1:n.1112G>A |