Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11650537C>T , CM000663.2:g.11650537C>T | GRCh38 |
| NC_000001.10:g.11710594C>T , CM000663.1:g.11710594C>T | GRCh37 |
| NC_000001.9:g.11633181C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_012168.6:c.320G>A MANE Select | NP_036300.2:p.Arg107His |
| ENST00000354287.5:c.320G>A MANE Select | ENSP00000346240.4:p.Arg107His |
| NM_012168.5:c.320G>A | NP_036300.2:p.Arg107His |
| ENST00000354287.4:c.320G>A | ENSP00000346240.4:p.Arg107His |
| ENST00000466919.1:n.502G>A | |
| ENST00000471501.1:n.177G>A | |
| ENST00000642025.1:c.234G>A |