Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.74634734G>A , CM000671.2:g.74634734G>A | GRCh38 |
| NC_000009.11:g.77249650G>A , CM000671.1:g.77249650G>A | GRCh37 |
| NC_000009.10:g.76439470G>A | NCBI36 |
| NG_046926.2:g.142399G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006914.4:c.197G>A MANE Select | NP_008845.2:p.Arg66Gln |
| ENST00000376896.8:c.197G>A MANE Select | ENSP00000366093.2:p.Arg66Gln |
| NM_001365023.1:c.230G>A | NP_001351952.1:p.Arg77Gln |
| NM_006914.3:c.197G>A | NP_008845.2:p.Arg66Gln |
| ENST00000376896.7:c.197G>A | ENSP00000366093.2:p.Arg66Gln |
| ENST00000396204.2:c.230G>A | ENSP00000379507.2:p.Arg77Gln |
| XR_929948.1:n.565-1612C>T | |
| XR_929948.2:n.565-1612C>T |