Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.10623006C>G , CM000670.2:g.10623006C>G | GRCh38 |
| NC_000008.10:g.10480516C>G , CM000670.1:g.10480516C>G | GRCh37 |
| NC_000008.9:g.10517926C>G | NCBI36 |
| NG_028035.1:g.37102G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_178857.6:c.196G>C MANE Select | NP_849188.4:p.Asp66His |
| ENST00000382483.4:c.196G>C MANE Select | ENSP00000371923.3:p.Asp66His |
| NM_178857.5:c.196G>C | NP_849188.4:p.Asp66His |
| ENST00000329335.3:n.446G>C | |
| ENST00000382483.3:c.196G>C | ENSP00000371923.3:p.Asp66His |