Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45987508T>C , CM000683.2:g.45987508T>C | GRCh38 |
| NC_000021.8:g.47407422T>C , CM000683.1:g.47407422T>C | GRCh37 |
| NC_000021.7:g.46231850T>C | NCBI36 |
| NG_008674.1:g.10760T>C , LRG_475:g.10760T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001848.3:c.748T>C MANE Select | NP_001839.2:p.Phe250Leu |
| ENST00000361866.8:c.748T>C MANE Select | ENSP00000355180.3:p.Phe250Leu |
| NM_001848.2:c.748T>C , LRG_475t1:c.748T>C | NP_001839.2:p.Phe250Leu |
| ENST00000361866.7:c.748T>C | ENSP00000355180.3:p.Phe250Leu |
| ENST00000492851.1:n.400T>C | |
| ENST00000612273.1:c.748T>C | ENSP00000483630.1:p.Phe250Leu |