Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.148172423C>A , CM000669.2:g.148172423C>A | GRCh38 |
| NC_000007.13:g.147869515C>A , CM000669.1:g.147869515C>A | GRCh37 |
| NC_000007.12:g.147500448C>A | NCBI36 |
| NG_007092.2:g.2061063C>A | |
| NG_007092.3:g.2061423C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014141.6:c.2955C>A MANE Select | NP_054860.1:p.His985Gln |
| ENST00000361727.8:c.2955C>A MANE Select | ENSP00000354778.3:p.His985Gln |
| NM_014141.5:c.2955C>A | NP_054860.1:p.His985Gln |
| ENST00000361727.7:c.2955C>A | ENSP00000354778.3:p.His985Gln |
| ENST00000627772.2:n.1128C>A | |
| ENST00000628930.2:c.132C>A | ENSP00000487516.1:p.His44Gln |
| ENST00000636870.1:n.2817C>A | |
| ENST00000636988.1:n.40C>A | |
| ENST00000637020.1:n.773C>A | |
| XM_006715919.1:c.1443C>A | XP_006715982.1:p.His481Gln |