Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29228987A>C , CM000664.2:g.29228987A>C | GRCh38 |
| NC_000002.11:g.29451853A>C , CM000664.1:g.29451853A>C | GRCh37 |
| NC_000002.10:g.29305357A>C | NCBI36 |
| NG_009445.1:g.697580T>G , LRG_488:g.697580T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004304.5:c.2712T>G MANE Select | NP_004295.2:p.His904Gln |
| ENST00000389048.8:c.2712T>G MANE Select | ENSP00000373700.3:p.His904Gln |
| NM_004304.4:c.2712T>G | NP_004295.2:p.His904Gln |
| ENST00000389048.7:c.2712T>G | ENSP00000373700.3:p.His904Gln |
| ENST00000618119.4:c.1581T>G | ENSP00000482733.1:p.His527Gln |
| XM_024452778.1:c.-62T>G | XP_024308546.1:n.-62T>G |
| XR_001738688.2:n.3642T>G |