Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10673007C>G , CM000682.2:g.10673007C>G | GRCh38 |
| NC_000020.10:g.10653655C>G , CM000682.1:g.10653655C>G | GRCh37 |
| NC_000020.9:g.10601655C>G | NCBI36 |
| NG_007496.1:g.6040G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000214.3:c.82-1G>C MANE Select | NP_000205.1:n.82-1G>C |
| ENST00000254958.10:c.82-1G>C MANE Select | ENSP00000254958.4:n.82-1G>C |
| NM_000214.2:c.82-1G>C | NP_000205.1:n.82-1G>C |
| ENST00000254958.9:c.82-1G>C | ENSP00000254958.4:n.82-1G>C |