Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.120938445T>C , CM000671.2:g.120938445T>C | GRCh38 |
| NC_000009.11:g.123700723T>C , CM000671.1:g.123700723T>C | GRCh37 |
| NC_000009.10:g.122740544T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696279.1:c.5899-4491A>G | ||
| ENST00000696280.1:n.5668-4491A>G | ||
| ENST00000696281.1:c.*548-4491A>G | ENSP00000512521.1:n.*548-4491A>G | |
| ENST00000697921.1:n.4457-4491A>G | ||
| ENST00000697922.1:c.*5569-4491A>G | ENSP00000513478.1:n.*5569-4491A>G |