Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.120942809A>G , CM000671.2:g.120942809A>G | GRCh38 |
| NC_000009.11:g.123705087A>G , CM000671.1:g.123705087A>G | GRCh37 |
| NC_000009.10:g.122744908A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_148450.1:n.1341T>C (C5-OT1) | |
| ENST00000696279.1:c.5899-8855T>C (C5) | |
| ENST00000696280.1:n.5668-8855T>C (C5) | |
| ENST00000696281.1:c.*548-8855T>C (C5) | ENSP00000512521.1:n.*548-8855T>C |
| ENST00000697921.1:n.4457-8855T>C (C5) | |
| ENST00000697922.1:c.*5569-8855T>C (C5) | ENSP00000513478.1:n.*5569-8855T>C |