Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.120944005G= , CM000671.2:g.120944005G= | GRCh38 |
| NC_000009.11:g.123706283G= , CM000671.1:g.123706283G= | GRCh37 |
| NC_000009.10:g.122746104G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_148450.1:n.641-496C= (C5-OT1) | |
| ENST00000696279.1:c.5898+8187C= (C5) | |
| ENST00000696280.1:n.5667+8187C= (C5) | |
| ENST00000696281.1:c.*547+8187C= (C5) | ENSP00000512521.1:n.*547+8187C= |
| ENST00000697921.1:n.4456+8187C= (C5) | |
| ENST00000697922.1:c.*5568+8187C= (C5) | ENSP00000513478.1:n.*5568+8187C= |