Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.10610898C>G , CM000670.2:g.10610898C>G | GRCh38 |
| NC_000008.10:g.10468408C>G , CM000670.1:g.10468408C>G | GRCh37 |
| NC_000008.9:g.10505818C>G | NCBI36 |
| NG_028035.1:g.49210G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_178857.6:c.3200G>C MANE Select | NP_849188.4:p.Gly1067Ala |
| ENST00000382483.4:c.3200G>C MANE Select | ENSP00000371923.3:p.Gly1067Ala |
| NM_178857.5:c.3200G>C | NP_849188.4:p.Gly1067Ala |
| ENST00000382483.3:c.3200G>C | ENSP00000371923.3:p.Gly1067Ala |