Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1232692C= , CM000663.2:g.1232692C= | GRCh38 |
| NC_000001.10:g.1168072C= , CM000663.1:g.1168072C= | GRCh37 |
| NC_000001.9:g.1157935C= | NCBI36 |
| NG_030007.1:g.4376G= | |
| NG_033265.1:g.5444C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379198.5:c.414C= MANE Select | ENSP00000368496.2:p.Ala138= | |
| ENST00000379198.3:c.414C= | ENSP00000368496.2:p.Ala138= | |
| NM_080605.3:c.414C= | NP_542172.2:p.Ala138= | |
| NM_080605.4:c.414C= MANE Select | NP_542172.2:p.Ala138= |