Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29297016G>C , CM000664.2:g.29297016G>C | GRCh38 |
| NC_000002.11:g.29519882G>C , CM000664.1:g.29519882G>C | GRCh37 |
| NC_000002.10:g.29373386G>C | NCBI36 |
| NG_009445.1:g.629551C>G , LRG_488:g.629551C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004304.5:c.1689C>G MANE Select | NP_004295.2:p.Asn563Lys |
| ENST00000389048.8:c.1689C>G MANE Select | ENSP00000373700.3:p.Asn563Lys |
| NM_004304.4:c.1689C>G | NP_004295.2:p.Asn563Lys |
| ENST00000389048.7:c.1689C>G | ENSP00000373700.3:p.Asn563Lys |
| ENST00000498037.1:n.244C>G | |
| ENST00000618119.4:c.558C>G | ENSP00000482733.1:p.Asn186Lys |
| XR_001738688.2:n.2619C>G |