Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29239772G>T , CM000664.2:g.29239772G>T | GRCh38 |
| NC_000002.11:g.29462638G>T , CM000664.1:g.29462638G>T | GRCh37 |
| NC_000002.10:g.29316142G>T | NCBI36 |
| NG_009445.1:g.686795C>A , LRG_488:g.686795C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004304.5:c.2263C>A MANE Select | NP_004295.2:p.His755Asn |
| ENST00000389048.8:c.2263C>A MANE Select | ENSP00000373700.3:p.His755Asn |
| NM_004304.4:c.2263C>A | NP_004295.2:p.His755Asn |
| ENST00000389048.7:c.2263C>A | ENSP00000373700.3:p.His755Asn |
| ENST00000618119.4:c.1132C>A | ENSP00000482733.1:p.His378Asn |
| XR_001738688.2:n.3193C>A |