Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.40679539A>C , CM000684.2:g.40679539A>C | GRCh38 |
| NC_000022.10:g.41075543A>C , CM000684.1:g.41075543A>C | GRCh37 |
| NC_000022.9:g.39405489A>C | NCBI36 |
| NG_029686.1:g.5362A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005297.4:c.-114A>C MANE Select | NP_005288.4:n.-114A>C |
| ENST00000249016.5:c.-114A>C MANE Select | ENSP00000249016.5:n.-114A>C |
| NM_005297.3:c.94A>C | NP_005288.3:p.Asn32His |
| ENST00000249016.4:c.94A>C | ENSP00000249016.4:p.Asn32His |
| ENST00000381433.2:c.94A>C | ENSP00000370841.2:p.Asn32His |
| ENST00000381433.3:c.-114A>C | ENSP00000370841.3:n.-114A>C |
| ENST00000498400.1:n.132+135A>C | |
| XR_938268.1:n.348+1069T>G |