Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10650276G>C , CM000682.2:g.10650276G>C | GRCh38 |
| NC_000020.10:g.10630924G>C , CM000682.1:g.10630924G>C | GRCh37 |
| NC_000020.9:g.10578924G>C | NCBI36 |
| NG_007496.1:g.28771C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000214.3:c.1205C>G MANE Select | NP_000205.1:p.Pro402Arg |
| ENST00000254958.10:c.1205C>G MANE Select | ENSP00000254958.4:p.Pro402Arg |
| NM_000214.2:c.1205C>G | NP_000205.1:p.Pro402Arg |
| ENST00000254958.9:c.1205C>G | ENSP00000254958.4:p.Pro402Arg |
| ENST00000423891.6:n.1071C>G | |
| ENST00000617965.2:n.1794C>G |