Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3154765C>T , CM000668.2:g.3154765C>T | GRCh38 |
| NC_000006.11:g.3154999C>T , CM000668.1:g.3154999C>T | GRCh37 |
| NC_000006.10:g.3099998C>T | NCBI36 |
| NG_042223.1:g.7785G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333628.4:c.436G>A MANE Select | ENSP00000369703.2:p.Gly146Arg | |
| ENST00000679400.1:n.492G>A | ||
| ENST00000679907.1:n.824G>A | ||
| ENST00000680036.1:n.1218G>A | ||
| ENST00000680967.1:n.1526G>A | ||
| ENST00000333628.3:c.436G>A | ENSP00000369703.2:p.Gly146Arg | |
| ENST00000489942.1:n.631G>A | ||
| NM_001069.2:c.436G>A | NP_001060.1:p.Gly146Arg | |
| NM_001310315.1:c.181G>A | NP_001297244.1:p.Gly61Arg | |
| NM_001069.3:c.436G>A MANE Select | NP_001060.1:p.Gly146Arg | |
| NM_001310315.2:c.181G>A | NP_001297244.1:p.Gly61Arg |