Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32857313G= , CM000668.2:g.32857313G= | GRCh38 |
| NC_000006.11:g.32825090G= , CM000668.1:g.32825090G= | GRCh37 |
| NC_000006.10:g.32933068G= | NCBI36 |
| NG_011759.1:g.1659C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374859.3:c.179G= MANE Select | ENSP00000363993.2:p.Arg60= | |
| ENST00000374859.2:c.179G= | ENSP00000363993.2:p.Arg60= | |
| ENST00000395330.5:c.110G= | ENSP00000378739.1:p.Arg37= | |
| ENST00000414474.5:c.110G= | ENSP00000394363.1:p.Arg37= | |
| ENST00000464863.1:n.1318G= | ||
| ENST00000467593.1:n.160G= | ||
| NM_002800.4:c.179G= | NP_002791.1:p.Arg60= | |
| NM_002800.5:c.179G= MANE Select | NP_002791.1:p.Arg60= |