Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.79916817A>C , CM000668.2:g.79916817A>C | GRCh38 |
| NC_000006.11:g.80626534A>C , CM000668.1:g.80626534A>C | GRCh37 |
| NC_000006.10:g.80683253A>C | NCBI36 |
| NG_009108.1:g.35782T>G | |
| NG_009108.2:g.35782T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369816.5:c.736T>G MANE Select | ENSP00000358831.4:p.Trp246Gly | |
| ENST00000369816.4:c.736T>G | ENSP00000358831.4:p.Trp246Gly | |
| NM_022726.3:c.736T>G | NP_073563.1:p.Trp246Gly | |
| NM_022726.4:c.736T>G MANE Select | NP_073563.1:p.Trp246Gly |