Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.120939712G>T , CM000671.2:g.120939712G>T | GRCh38 |
| NC_000009.11:g.123701990G>T , CM000671.1:g.123701990G>T | GRCh37 |
| NC_000009.10:g.122741811G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000696279.1:c.5899-5758C>A | |
| ENST00000696280.1:n.5668-5758C>A | |
| ENST00000696281.1:c.*548-5758C>A | ENSP00000512521.1:n.*548-5758C>A |
| ENST00000697921.1:n.4457-5758C>A | |
| ENST00000697922.1:c.*5569-5758C>A | ENSP00000513478.1:n.*5569-5758C>A |