Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226702G>T , CM000673.2:g.5226702G>T | GRCh38 |
| NC_000011.9:g.5247932G>T , CM000673.1:g.5247932G>T | GRCh37 |
| NC_000011.8:g.5204508G>T | NCBI36 |
| NG_000007.3:g.70914C>A | |
| NG_059281.1:g.5370C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000518.5:c.190C>A MANE Select | NP_000509.1:p.His64Asn |
| ENST00000335295.4:c.190C>A MANE Select | ENSP00000333994.3:p.His64Asn |
| NM_000518.4:c.190C>A | NP_000509.1:p.His64Asn |
| ENST00000380315.2:c.190C>A | ENSP00000369671.2:p.His64Asn |
| ENST00000475226.1:n.122C>A | |
| ENST00000485743.1:n.241C>A | |
| ENST00000633227.1:c.*6C>A | ENSP00000488004.1:n.*6C>A |
| ENST00000647020.1:c.190C>A | ENSP00000494175.1:p.His64Asn |