Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1390846C>G , CM000668.2:g.1390846C>G | GRCh38 |
| NC_000006.11:g.1391081C>G , CM000668.1:g.1391081C>G | GRCh37 |
| NC_000006.10:g.1336080C>G | NCBI36 |
| NG_046984.1:g.6013C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645481.2:c.899C>G MANE Select | ENSP00000496415.1:p.Ala300Gly | |
| ENST00000259806.1:c.899C>G | ENSP00000259806.1:p.Ala300Gly | |
| NM_001452.1:c.899C>G | NP_001443.1:p.Ala300Gly | |
| NM_001452.2:c.899C>G MANE Select | NP_001443.1:p.Ala300Gly |