Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29297035C>T , CM000664.2:g.29297035C>T | GRCh38 |
| NC_000002.11:g.29519901C>T , CM000664.1:g.29519901C>T | GRCh37 |
| NC_000002.10:g.29373405C>T | NCBI36 |
| NG_009445.1:g.629532G>A , LRG_488:g.629532G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004304.5:c.1670G>A MANE Select | NP_004295.2:p.Arg557His |
| ENST00000389048.8:c.1670G>A MANE Select | ENSP00000373700.3:p.Arg557His |
| NM_004304.4:c.1670G>A | NP_004295.2:p.Arg557His |
| ENST00000389048.7:c.1670G>A | ENSP00000373700.3:p.Arg557His |
| ENST00000498037.1:n.225G>A | |
| ENST00000618119.4:c.539G>A | ENSP00000482733.1:p.Arg180His |
| XR_001738688.2:n.2600G>A |