Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1609927A>G , CM000668.2:g.1609927A>G | GRCh38 |
| NC_000006.11:g.1610162A>G , CM000668.1:g.1610162A>G | GRCh37 |
| NC_000006.10:g.1555161A>G | NCBI36 |
| NG_009368.1:g.4482A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645831.2:c.-519A>G MANE Select | ENSP00000493906.1:n.-519A>G | |
| NM_001453.3:c.-519A>G MANE Select | NP_001444.2:n.-519A>G |