Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.86137624G>C , CM000664.2:g.86137624G>C | GRCh38 |
| NC_000002.11:g.86364747G>C , CM000664.1:g.86364747G>C | GRCh37 |
| NC_000002.10:g.86218258G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254630.12:c.*65G>C MANE Select | ENSP00000254630.7:n.*65G>C | |
| ENST00000254630.11:c.*65G>C | ENSP00000254630.7:n.*65G>C | |
| NM_017952.5:c.*65G>C | NP_060422.4:n.*65G>C | |
| NM_017952.6:c.*65G>C MANE Select | NP_060422.4:n.*65G>C |