Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102527941T>G , CM000673.2:g.102527941T>G | GRCh38 |
| NC_000011.9:g.102398672T>G , CM000673.1:g.102398672T>G | GRCh37 |
| NC_000011.8:g.101903882T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002423.5:c.151A>C MANE Select | NP_002414.1:p.Asn51His |
| ENST00000260227.5:c.151A>C MANE Select | ENSP00000260227.4:p.Asn51His |
| NM_002423.3:c.151A>C | NP_002414.1:p.Asn51His |
| NM_002423.4:c.151A>C | NP_002414.1:p.Asn51His |
| ENST00000260227.4:c.151A>C | ENSP00000260227.4:p.Asn51His |
| ENST00000531200.1:n.198A>C | |
| ENST00000533366.5:n.201A>C |