Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.10286390T>G , CM000667.2:g.10286390T>G | GRCh38 |
| NC_000005.9:g.10286502T>G , CM000667.1:g.10286502T>G | GRCh37 |
| NC_000005.8:g.10339502T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296658.4:c.430A>C MANE Select | ENSP00000296658.3:p.Lys144Gln | |
| ENST00000296658.3:c.430A>C | ENSP00000296658.3:p.Lys144Gln | |
| ENST00000506821.1:n.684A>C | ||
| ENST00000510532.5:n.498A>C | ||
| ENST00000511963.5:n.538A>C | ||
| NM_138809.3:c.430A>C | NP_620164.1:p.Lys144Gln | |
| NM_138809.4:c.430A>C MANE Select | NP_620164.1:p.Lys144Gln |