Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.79921662C>T , CM000668.2:g.79921662C>T | GRCh38 |
| NC_000006.11:g.80631379C>T , CM000668.1:g.80631379C>T | GRCh37 |
| NC_000006.10:g.80688098C>T | NCBI36 |
| NG_009108.1:g.30937G>A | |
| NG_009108.2:g.30937G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_022726.4:c.504G>A MANE Select | NP_073563.1:p.Leu168= |
| ENST00000369816.5:c.504G>A MANE Select | ENSP00000358831.4:p.Leu168= |
| NM_022726.3:c.504G>A | NP_073563.1:p.Leu168= |
| ENST00000369816.4:c.504G>A | ENSP00000358831.4:p.Leu168= |