Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44286137A>C , CM000683.2:g.44286137A>C | GRCh38 |
| NC_000021.8:g.45706020A>C , CM000683.1:g.45706020A>C | GRCh37 |
| NC_000021.7:g.44530448A>C | NCBI36 |
| NG_009556.1:g.5258A>C , LRG_18:g.5258A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000383.4:c.131A>C MANE Select | NP_000374.1:p.Gln44Pro |
| ENST00000291582.6:c.131A>C MANE Select | ENSP00000291582.5:p.Gln44Pro |
| NM_000383.3:c.131A>C | NP_000374.1:p.Gln44Pro |
| ENST00000291582.5:c.131A>C | ENSP00000291582.5:p.Gln44Pro |
| ENST00000527919.5:n.292A>C | |
| ENST00000530812.5:n.300A>C | |
| XM_011529551.1:c.131A>C | XP_011527853.1:p.Gln44Pro |