Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6604637G>T , CM000671.2:g.6604637G>T | GRCh38 |
| NC_000009.11:g.6604637G>T , CM000671.1:g.6604637G>T | GRCh37 |
| NC_000009.10:g.6594637G>T | NCBI36 |
| NG_016397.1:g.46056C>A , LRG_643:g.46056C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000170.3:c.1009C>A MANE Select | NP_000161.2:p.Arg337= |
| ENST00000321612.8:c.1009C>A MANE Select | ENSP00000370737.4:p.Arg337= |
| NM_000170.2:c.1009C>A , LRG_643t1:c.1009C>A | NP_000161.2:p.Arg337= |
| ENST00000321612.6:c.1009C>A | ENSP00000370737.3:p.Arg337= |
| ENST00000463305.1:n.142+494C>A | |
| ENST00000638654.1:c.256C>A | ENSP00000491101.1:p.Arg86= |
| ENST00000639364.1:n.709C>A | |
| ENST00000639443.1:n.577C>A | |
| ENST00000639493.1:n.161C>A | |
| ENST00000639954.1:n.717C>A | |
| ENST00000640592.1:n.892C>A |