Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.110198158C>G , CM000663.2:g.110198158C>G | GRCh38 |
| NC_000001.10:g.110740780C>G , CM000663.1:g.110740780C>G | GRCh37 |
| NC_000001.9:g.110542303C>G | NCBI36 |
| NG_051945.1:g.52645C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001010898.4:c.1898C>G MANE Select | NP_001010898.1:p.Pro633Arg |
| ENST00000331565.5:c.1898C>G MANE Select | ENSP00000330199.3:p.Pro633Arg |
| NM_001010898.2:c.1898C>G | NP_001010898.1:p.Pro633Arg |
| NM_001010898.3:c.1898C>G | NP_001010898.1:p.Pro633Arg |
| ENST00000331565.4:c.1898C>G | ENSP00000330199.3:p.Pro633Arg |
| XM_006710643.1:c.1898C>G | XP_006710706.1:p.Pro633Arg |
| XM_006710643.2:c.1898C>G | XP_006710706.1:p.Pro633Arg |