Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31335853G>C , CM000664.2:g.31335853G>C | GRCh38 |
| NC_000002.11:g.31558719G>C , CM000664.1:g.31558719G>C | GRCh37 |
| NC_000002.10:g.31412223G>C | NCBI36 |
| NG_008871.1:g.83893C>G | |
| NG_008871.2:g.83893C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379416.4:c.*105C>G MANE Select | ENSP00000368727.3:n.*105C>G | |
| ENST00000379416.3:c.*105C>G | ENSP00000368727.3:n.*105C>G | |
| NM_000379.3:c.*105C>G | NP_000370.2:n.*105C>G | |
| XM_011533095.1:c.*105C>G | XP_011531397.1:n.*105C>G | |
| XM_011533095.2:c.*105C>G | XP_011531397.1:n.*105C>G | |
| NM_000379.4:c.*105C>G MANE Select | NP_000370.2:n.*105C>G |