Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.110198158C>T , CM000663.2:g.110198158C>T | GRCh38 |
| NC_000001.10:g.110740780C>T , CM000663.1:g.110740780C>T | GRCh37 |
| NC_000001.9:g.110542303C>T | NCBI36 |
| NG_051945.1:g.52645C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001010898.4:c.1898C>T MANE Select | NP_001010898.1:p.Pro633Leu |
| ENST00000331565.5:c.1898C>T MANE Select | ENSP00000330199.3:p.Pro633Leu |
| NM_001010898.2:c.1898C>T | NP_001010898.1:p.Pro633Leu |
| NM_001010898.3:c.1898C>T | NP_001010898.1:p.Pro633Leu |
| ENST00000331565.4:c.1898C>T | ENSP00000330199.3:p.Pro633Leu |
| XM_006710643.1:c.1898C>T | XP_006710706.1:p.Pro633Leu |
| XM_006710643.2:c.1898C>T | XP_006710706.1:p.Pro633Leu |