Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154969438C>T , CM000685.2:g.154969438C>T | GRCh38 |
| NC_000023.10:g.154197713C>T , CM000685.1:g.154197713C>T | GRCh37 |
| NC_000023.9:g.153850907C>T | NCBI36 |
| NG_011403.1:g.58286G>A | |
| NG_011403.2:g.58286G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.902G>A MANE Select | ENSP00000353393.4:p.Arg301His | |
| ENST00000647125.1:c.*778G>A | ENSP00000496062.1:n.*778G>A | |
| ENST00000360256.8:c.902G>A | ENSP00000353393.4:p.Arg301His | |
| NM_000132.3:c.902G>A | NP_000123.1:p.Arg301His | |
| XM_011531126.1:c.797G>A | XP_011529428.1:p.Arg266His | |
| NM_000132.4:c.902G>A MANE Select | NP_000123.1:p.Arg301His |