Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.117675916C>A , CM000668.2:g.117675916C>A | GRCh38 |
| NC_000006.11:g.117997079C>A , CM000668.1:g.117997079C>A | GRCh37 |
| NC_000006.10:g.118103772C>A | NCBI36 |
| NG_054913.1:g.5463C>A | |
| NG_054913.2:g.5463C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_138459.5:c.246C>A MANE Select | NP_612468.1:p.His82Gln |
| ENST00000368494.4:c.246C>A MANE Select | ENSP00000357480.3:p.His82Gln |
| NM_138459.3:c.246C>A | NP_612468.1:p.His82Gln |
| NM_138459.4:c.246C>A | NP_612468.1:p.His82Gln |
| ENST00000368494.3:c.246C>A | ENSP00000357480.3:p.His82Gln |