Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.10612811G>C , CM000670.2:g.10612811G>C | GRCh38 |
| NC_000008.10:g.10470321G>C , CM000670.1:g.10470321G>C | GRCh37 |
| NC_000008.9:g.10507731G>C | NCBI36 |
| NG_028035.1:g.47297C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382483.4:c.1287C>G MANE Select | ENSP00000371923.3:p.Ala429= | |
| ENST00000382483.3:c.1287C>G | ENSP00000371923.3:p.Ala429= | |
| NM_178857.5:c.1287C>G | NP_849188.4:p.Ala429= | |
| NM_178857.6:c.1287C>G MANE Select | NP_849188.4:p.Ala429= |