Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.145850669C>A , CM000663.2:g.145850669C>A | GRCh38 |
| NC_000001.10:g.145584399G>T , CM000663.1:g.145584399G>T | GRCh37 |
| NC_000001.9:g.144295756G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393045.7:c.1449-83G>T MANE Select | ENSP00000376765.2:n.1449-83G>T | |
| ENST00000369298.5:c.1344-83G>T | ENSP00000358304.1:n.1344-83G>T | |
| ENST00000393045.6:c.1449-83G>T | ENSP00000376765.2:n.1449-83G>T | |
| ENST00000472114.5:n.505-83G>T | ||
| ENST00000475261.1:n.1317-83G>T | ||
| NM_006099.3:c.1449-83G>T MANE Select | NP_006090.2:n.1449-83G>T |