Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.10474995C>G , CM000663.2:g.10474995C>G | GRCh38 |
| NC_000001.10:g.10535052C>G , CM000663.1:g.10535052C>G | GRCh37 |
| NC_000001.9:g.10457639C>G | NCBI36 |
| NG_008340.1:g.5050C>G | |
| NG_029098.1:g.2562G>C | |
| NG_008340.2:g.5050C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004565.3:c.29C>G MANE Select | NP_004556.1:p.Pro10Arg |
| ENST00000356607.9:c.29C>G MANE Select | ENSP00000349016.4:p.Pro10Arg |
| NM_004565.2:c.29C>G | NP_004556.1:p.Pro10Arg |
| ENST00000356607.8:c.29C>G | ENSP00000349016.4:p.Pro10Arg |
| ENST00000472851.1:n.293+2415C>G | |
| ENST00000491661.2:c.14C>G | ENSP00000465473.1:p.Pro5Arg |
| XM_011541580.1:c.29C>G | XP_011539882.1:p.Pro10Arg |