Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.248180707G>C , CM000663.2:g.248180707G>C | GRCh38 |
| NC_000001.10:g.248344009G>C , CM000663.1:g.248344009G>C | GRCh37 |
| NC_000001.9:g.246410632G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001004688.2:c.722G>C MANE Select | NP_001004688.1:p.Cys241Ser |
| ENST00000641836.1:c.722G>C MANE Select | ENSP00000493201.1:p.Cys241Ser |
| NM_001004688.1:c.722G>C | NP_001004688.1:p.Cys241Ser |
| ENST00000359682.2:c.722G>C | ENSP00000352710.2:p.Cys241Ser |
| ENST00000641211.1:c.722G>C | ENSP00000492974.1:p.Cys241Ser |