Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67940070C>T , CM000678.2:g.67940070C>T | GRCh38 |
| NC_000016.9:g.67973973C>T , CM000678.1:g.67973973C>T | GRCh37 |
| NC_000016.8:g.66531474C>T | NCBI36 |
| NG_009778.1:g.9043G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264005.10:c.1157G>A MANE Select | ENSP00000264005.5:p.Arg386His | |
| ENST00000264005.9:c.1157G>A | ENSP00000264005.5:p.Arg386His | |
| ENST00000570369.5:c.160G>A | ||
| ENST00000573538.5:c.895G>A | ENSP00000463220.1:n.895G>A | |
| NM_000229.1:c.1157G>A | NP_000220.1:p.Arg386His | |
| NM_000229.2:c.1157G>A MANE Select | NP_000220.1:p.Arg386His |