Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.41741331C>T , CM000683.2:g.41741331C>T | GRCh38 |
| NC_000021.8:g.43161491C>T , CM000683.1:g.43161491C>T | GRCh37 |
| NC_000021.7:g.42034560C>T | NCBI36 |
| NG_032113.1:g.30759G>A | |
| NG_032113.2:g.30759G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332512.8:c.1862G>A MANE Select | ENSP00000332454.3:p.Arg621His | |
| ENST00000332512.7:c.1862G>A | ENSP00000332454.3:p.Arg621His | |
| ENST00000352483.3:c.2006G>A | ENSP00000330161.2:p.Arg669His | |
| NM_020639.2:c.1862G>A | NP_065690.2:p.Arg621His | |
| NM_020639.3:c.1862G>A MANE Select | NP_065690.2:p.Arg621His |