Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.763468T>C , CM000673.2:g.763468T>C | GRCh38 |
| NC_000011.9:g.763468T>C , CM000673.1:g.763468T>C | GRCh37 |
| NC_000011.8:g.753468T>C | NCBI36 |
| NG_008160.1:g.21037T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319006.8:c.586T>C MANE Select | ENSP00000321259.3:p.Trp196Arg | |
| ENST00000319006.7:c.586T>C | ENSP00000321259.3:p.Trp196Arg | |
| ENST00000528070.5:c.*584T>C | ENSP00000435042.1:n.*584T>C | |
| ENST00000528097.5:c.586T>C | ENSP00000437098.1:p.Trp196Arg | |
| ENST00000530440.1:c.*245T>C | ENSP00000433501.1:n.*245T>C | |
| NM_006755.1:c.586T>C | NP_006746.1:p.Trp196Arg | |
| NM_006755.2:c.586T>C MANE Select | NP_006746.1:p.Trp196Arg |