Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.10612469C>T , CM000670.2:g.10612469C>T | GRCh38 |
| NC_000008.10:g.10469979C>T , CM000670.1:g.10469979C>T | GRCh37 |
| NC_000008.9:g.10507389C>T | NCBI36 |
| NG_028035.1:g.47639G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382483.4:c.1629G>A MANE Select | ENSP00000371923.3:p.Glu543= | |
| ENST00000382483.3:c.1629G>A | ENSP00000371923.3:p.Glu543= | |
| NM_178857.5:c.1629G>A | NP_849188.4:p.Glu543= | |
| NM_178857.6:c.1629G>A MANE Select | NP_849188.4:p.Glu543= |