Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.49584634C>T , CM000685.2:g.49584634C>T | GRCh38 |
| NC_000023.9:g.49117781C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381722.2:c.244C>T MANE Select | ENSP00000371141.1:p.Pro82Ser | |
| ENST00000381722.1:c.244C>T | ENSP00000371141.1:p.Pro82Ser | |
| NM_001098410.1:c.244C>T | NP_001091880.1:p.Pro82Ser | |
| NM_001098410.3:c.244C>T MANE Select | NP_001091880.1:p.Pro82Ser |