Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.10312626C>T , CM000679.2:g.10312626C>T | GRCh38 |
| NC_000017.10:g.10215943C>T , CM000679.1:g.10215943C>T | GRCh37 |
| NC_000017.9:g.10156668C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003802.3:c.4313G>A MANE Select | NP_003793.2:p.Arg1438His |
| ENST00000252172.9:c.4313G>A MANE Select | ENSP00000252172.4:p.Arg1438His |
| NM_003802.2:c.4313G>A | NP_003793.2:p.Arg1438His |
| ENST00000252172.8:c.4313G>A | ENSP00000252172.4:p.Arg1438His |
| ENST00000418404.7:c.4313G>A | ENSP00000404570.3:p.Arg1438His |
| ENST00000418404.8:c.4313G>A | ENSP00000404570.3:p.Arg1438His |
| ENST00000621918.1:c.4313G>A | ENSP00000480864.1:p.Arg1438His |