Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1232578C>A , CM000663.2:g.1232578C>A | GRCh38 |
| NC_000001.10:g.1167958C>A , CM000663.1:g.1167958C>A | GRCh37 |
| NC_000001.9:g.1157821C>A | NCBI36 |
| NG_030007.1:g.4490G>T | |
| NG_033265.1:g.5330C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379198.5:c.300C>A MANE Select | ENSP00000368496.2:p.Gly100= | |
| ENST00000379198.3:c.300C>A | ENSP00000368496.2:p.Gly100= | |
| NM_080605.3:c.300C>A | NP_542172.2:p.Gly100= | |
| NM_080605.4:c.300C>A MANE Select | NP_542172.2:p.Gly100= |