Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73998280T>G , CM000666.2:g.73998280T>G | GRCh38 |
| NC_000004.11:g.74863997T>G , CM000666.1:g.74863997T>G | GRCh37 |
| NC_000004.10:g.75082861T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002994.5:c.168A>C MANE Select | NP_002985.1:p.Gln56His |
| ENST00000296027.5:c.168A>C MANE Select | ENSP00000296027.4:p.Gln56His |
| NM_002994.4:c.168A>C | NP_002985.1:p.Gln56His |
| ENST00000296027.4:c.168A>C | ENSP00000296027.4:p.Gln56His |