Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.15765687A>G , CM000670.2:g.15765687A>G | GRCh38 |
| NC_000008.10:g.15623196A>G , CM000670.1:g.15623196A>G | GRCh37 |
| NC_000008.9:g.15667567A>G | NCBI36 |
| NG_012141.2:g.230467A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006765.4:c.*1531A>G MANE Select | NP_006756.2:n.*1531A>G |
| ENST00000503731.6:c.*1531A>G MANE Select | ENSP00000424544.1:n.*1531A>G |
| NM_006765.3:c.*1531A>G | NP_006756.2:n.*1531A>G |
| NM_178234.2:c.*1469A>G | NP_839952.1:n.*1469A>G |
| ENST00000382020.8:c.*1469A>G | ENSP00000371450.4:n.*1469A>G |