Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.114044384C>G , CM000672.2:g.114044384C>G | GRCh38 |
| NC_000010.10:g.115804143C>G , CM000672.1:g.115804143C>G | GRCh37 |
| NC_000010.9:g.115794133C>G | NCBI36 |
| NG_012187.1:g.5338C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369295.4:c.252C>G MANE Select | ENSP00000358301.2:p.Ala84= | |
| ENST00000369295.3:c.252C>G | ENSP00000358301.2:p.Ala84= | |
| NM_000684.2:c.252C>G | NP_000675.1:p.Ala84= | |
| NM_000684.3:c.252C>G MANE Select | NP_000675.1:p.Ala84= |