Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29297053C>T , CM000664.2:g.29297053C>T | GRCh38 |
| NC_000002.11:g.29519919C>T , CM000664.1:g.29519919C>T | GRCh37 |
| NC_000002.10:g.29373423C>T | NCBI36 |
| NG_009445.1:g.629514G>A , LRG_488:g.629514G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004304.5:c.1652G>A MANE Select | NP_004295.2:p.Arg551Gln |
| ENST00000389048.8:c.1652G>A MANE Select | ENSP00000373700.3:p.Arg551Gln |
| NM_004304.4:c.1652G>A | NP_004295.2:p.Arg551Gln |
| ENST00000389048.7:c.1652G>A | ENSP00000373700.3:p.Arg551Gln |
| ENST00000498037.1:n.207G>A | |
| ENST00000618119.4:c.521G>A | ENSP00000482733.1:p.Arg174Gln |
| XR_001738688.2:n.2582G>A |